Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_000527.5(LDLR):c.2488A>T (p.Lys830Ter)

CA404099375

1454181 (ClinVar)

Gene: LDLR (HGNC:3949)
Condition: hypercholesterolemia, familial (MONDO:0007750)
Inheritance Mode: Semidominant inheritance
UUID: 3a087278-0c28-4591-b3ba-df3a81e875e3
Approved on: 2025-12-04
Published on: 2026-02-02

HGVS expressions

NM_000527.5:c.2488A>T
NM_000527.5(LDLR):c.2488A>T (p.Lys830Ter)
NC_000019.10:g.11129611A>T
CM000681.2:g.11129611A>T
NC_000019.9:g.11240287A>T
CM000681.1:g.11240287A>T
NC_000019.8:g.11101287A>T
NG_009060.1:g.45231A>T
ENST00000252444.10:c.2746A>T
ENST00000559340.2:c.*557A>T
ENST00000560467.2:c.2368A>T
ENST00000558518.6:c.2488A>T
ENST00000252444.9:c.2742A>T
ENST00000455727.6:c.1984A>T
ENST00000535915.5:c.2365A>T
ENST00000545707.5:c.1954A>T
ENST00000557933.5:c.2550A>T
ENST00000558013.5:c.2488A>T
ENST00000558518.5:c.2488A>T
ENST00000560628.1:n.108+1957A>T
NM_000527.4:c.2488A>T
NM_001195798.1:c.2488A>T
NM_001195799.1:c.2365A>T
NM_001195800.1:c.1984A>T
NM_001195803.1:c.1954A>T
NM_001195798.2:c.2488A>T
NM_001195799.2:c.2365A>T
NM_001195800.2:c.1984A>T
NM_001195803.2:c.1954A>T
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Uncertain Significance

Met criteria codes 2
PVS1_Moderate PM2
Not Met criteria codes 4
PS3 PS4 PP4 BS3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
The NM_000527.5(LDLR):c.2488A>T (p.Lys830Ter) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes PM2 and PVS1_Moderate as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on 04 December 2025. The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v4.1.0); PVS1_Moderate - This nonsense variant leads to a stop at codon 830.
Met criteria codes
PVS1_Moderate
This nonsense variant leads to a stop at codon 830.
PM2
This variant is absent from gnomAD (gnomAD v4.1.0)
Not Met criteria codes
PS3
No functional assays performed/found - not applicable.
PS4
Variant meets PM2 but no cases reported in VCI or in literature.
PP4
Variant meets PM2 but no cases reported in VCI or in literature.
BS3
No functional assays performed/found - not applicable.
Curation History
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