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]
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Variant: NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)

CA10585809

252258 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: c4ca2e41-d963-4724-bc04-e9367a9c883c

HGVS expressions

NM_000527.5:c.2215C>T
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
NC_000019.10:g.11123248C>T
CM000681.2:g.11123248C>T
NC_000019.9:g.11233924C>T
CM000681.1:g.11233924C>T
NC_000019.8:g.11094924C>T
NG_009060.1:g.38868C>T
ENST00000558518.6:c.2215C>T
ENST00000252444.9:n.2469C>T
ENST00000455727.6:c.1711C>T
ENST00000535915.5:c.2092C>T
ENST00000545707.5:c.1681C>T
ENST00000557933.5:c.2215C>T
ENST00000558013.5:c.2215C>T
ENST00000558518.5:c.2215C>T
NM_000527.4:c.2215C>T
NM_001195798.1:c.2215C>T
NM_001195799.1:c.2092C>T
NM_001195800.1:c.1711C>T
NM_001195803.1:c.1681C>T
NM_001195798.2:c.2215C>T
NM_001195799.2:c.2092C>T
NM_001195800.2:c.1711C>T
NM_001195803.2:c.1681C>T

Pathogenic

Met criteria codes 3
PM2 PVS1 PP4
Not Met criteria codes 2
PS4 PS3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
The NM_000527.5(LDLR) :c.2215C>T (p.Gln739Ter) variant is classified as Pathogenic for Familial Hypercholesterolemia by applying evidence code PVS1, PM2 and PP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1). PVS1 - Stop in codon 739. It is upstream of amino acid 830. PP4 - Variant meets PM2 and is identified in one index case who fulfill FH/DLCN>=6 criteria for FH from Robarts Research Institute after alternative causes of high cholesterol were excluded.
Met criteria codes
PM2
This variant is absent from gnomAD (gnomAD v2.1.1).
PVS1
Stop in codon 739. It is upstream of amino acid 830.
PP4
Variant meets PM2 and is identified in one index case who fulfill FH/DLCN>=6 criteria for FH from Robarts Research Institute after alternative causes of high cholesterol were excluded.
Not Met criteria codes
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2022-08-29
Published on: 2022-12-23
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