LDLR D362Afs*8 (c.1085del, rs879254786)

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Variant

LDLR D362Afs*8

NM_000527.5(LDLR):c.1085del (p.Asp362AlafsTer8)

Also known as

p.Asp362AlafsTer8
p.D362Afs*8
rs879254786

ClinVar classification: Pathogenic
Review status: 2 stars out of 4criteria provided, multiple submitters, no conflicts
Last evaluated: 16 December 2016

Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.19-9814e911Facts last changed 19 October 2026

This page as data

Add .json to the page's address, or ask for application/json, to read it as JSON.

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Summary

D362Afs*8 is a frameshift variant in LDLR: it adds or removes DNA letters in a way that shifts how the rest of the gene's code is read. ClinVar classifies it as pathogenic for hypercholesterolemia, familial, 1 (criteria provided, multiple submitters, no conflicts).

ClinVar classifications

Condition	Classification	Review status	Submissions	Last evaluated
hypercholesterolemia, familial, 1ClinVar VCV000251655 (opens in a new tab)	Pathogenic	2 stars out of 4criteria provided, multiple submitters, no conflicts	4 submissions	16 December 2016

Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.

ACMG/AMP criteria

The ACMG/AMP criteria D362Afs*8 meets, from its predicted effect in LDLR, gnomAD and ClinVar.

Criterion	Strength	Points	Rests on
PVS1Null variant where loss of function causes disease	Very strong	+8	frameshift_variant on NM_000527.5Expected to cause nonsense-mediated decayWhether loss of function causes disease in this gene was not checked
PM2Absent or very rare in population databases	Supporting	+1	Not seen in gnomAD exomes, gnomAD genomes
PP5A reputable source reports it as pathogenic	Supporting	Not counted	ClinVar: Pathogenic (criteria provided, multiple submitters, no conflicts)

On these criteria alone: +9 points, likely pathogenic.

Assessed automatically, without functional, computational or family evidence. Not a clinical classification.

Population frequency

How often D362Afs*8 is seen among the people whose exomes and genomes gnomAD 4.1 brings together.

Dataset	Allele frequency	Allele count	Homozygotes	Commonest in
gnomAD exomes	Not seen	0 of 0	0
gnomAD genomes	Not seen	0 of 0	0

Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result.

D362Afs*8 in the gnomAD browser (opens in a new tab)

Where it lies in LDLR

D362Afs*8 lies in exon 8 of the 18 in LDLR's MANE Select transcript, NM_000527.5.

LDLR variants in exon 8 →LDLR's gene diagram →

Molecular details

Gene	LDLR
Transcript	NM_000527.5MANE Select
Coding DNA change (HGVS c.)	c.1085del
Protein change (HGVS p.)	p.Asp362AlafsTer8p.D362Afs*8
Predicted consequence	Frameshiftframeshift_variant (opens in a new tab)frameshift_truncation (opens in a new tab)
Predicted impact	High
Position (GRCh38)	chr19:11111537 GA>G
Position (GRCh37)	chr19:11222213 GA>G
dbSNP ID	rs879254786 (opens in a new tab)
ClinVar Variation ID	VCV000251655 (opens in a new tab)
ClinVar Allele ID	245978
ClinGen Allele Registry ID	CA10585296 (opens in a new tab)
ClinVar name	NM_000527.5(LDLR):c.1085del (p.Asp362fs)

LDLR D362Afs*8 in other databases

Reports that look at this variant (2)

These Genome Test condition reports include D362Afs*8 among the variants they look at.

Report	Conditions	Inheritance
Familial Hypercholesterolemia	familial hypercholesterolemia
Hyperlipidemia	Hyperlipidemia

All LDLR variants

Limitations

This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.

Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.

Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.

If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.

Sources & credits

Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
Allele identifiers from the ClinGen Allele Registry (release 2026-10-19-c4908f54).
Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-19).
Difficult regions from the Genome in a Bottle Consortium (release v3.6).
Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
Built from Dante Labs data release 2026.10.19-9814e911 of 19 October 2026.

Cite this page

APA

Dante Labs. (19 October 2026). LDLR D362Afs*8 (c.1085del, rs879254786) (Version 2026.10.19-9814e911). Retrieved 21 October 2026, from https://dantelabs.com/genes/ldlr/variants/d362afs8

Vancouver

Dante Labs. LDLR D362Afs*8 (c.1085del, rs879254786) [Internet]. Version 2026.10.19-9814e911. 19 October 2026 [cited 21 October 2026]. Available from: https://dantelabs.com/genes/ldlr/variants/d362afs8

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