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_000527.4(LDLR):c.-142C>G

CA645373260

430742 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: 436502c5-acf7-428d-a856-546192075a4d

HGVS expressions

NM_000527.4:c.-142C>G
NM_000527.4(LDLR):c.-142C>G
NC_000019.10:g.11089407C>G
CM000681.2:g.11089407C>G
NC_000019.9:g.11200083C>G
CM000681.1:g.11200083C>G
NC_000019.8:g.11061083C>G
NG_009060.1:g.5027C>G
ENST00000558518.5:c.-142C>G
NM_001195798.1:c.-142C>G
NM_001195799.1:c.-142C>G
NM_001195800.1:c.-142C>G
NM_001195803.1:c.-142C>G
NR_163945.1:n.253G>C

Uncertain Significance

Met criteria codes 2
PP4 PM2
Not Met criteria codes 20
PS2 PS4 PS3 PS1 PP1 PP3 PM6 PM3 PM1 PM4 PM5 PVS1 BA1 BS2 BS4 BS3 BS1 BP2 BP3 BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
The NM_000527.4(LDLR):c.-142C>G variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes 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). So PM2 is met. PP4: Variant meets PM2 and is identified in 1 case with definite FH based on DLCN criteria from U4M - Lille University & CHRU Lille, Université de Lille . So PP4 is met.
Met criteria codes
PP4
Variant meets PM2 and is identified in 1 case with definite FH based on DLCN criteria from U4M - Lille University & CHRU Lille, Université de Lille . So PP4 is met.
PM2
This variant is absent from gnomAD (gnomAD v2.1.1). So PM2 is met.
Not Met criteria codes
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
Variant meets PM2 and is identified in 1 case with definite FH based on DLCN criteria from U4M - Lille University & CHRU Lille, Université de Lille
PS3
No data available
PS1
The variant is in a non-coding region.
PP1
No data available
PP3
No REVEL available.
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
Not in exon 4. Not a cysteine residue.
PM4
No in-frame deletions/insertions
PM5
The variant is in a non-coding region.
PVS1
Not a null variant.
BA1
This variant is absent from gnomAD (gnomAD v2.1.1).
BS2
No data available
BS4
No data available
BS3
No data available
BS1
This variant is absent from gnomAD (gnomAD v2.1.1).
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No in-frame deletions/insertions
BP4
No REVEL available.
Approved on: 2022-10-28
Published on: 2022-12-24
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