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]
Link to SEPIO compliant JSON-LD document
  • There was no gene found in the curated document received from the VCI/VCEP
  • Gene listed was thus derived from ClinVar and/or CAR
  • No CSPEC related information was provided by the message!
  • See Evidence submitted by expert panel for details.

Variant: NM_000527.4(LDLR):c.-140C>A

CA16609801

403628 (ClinVar)

Gene: N/A
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: e33183ee-49b9-41e5-adbb-5ae2f04aa421

HGVS expressions

NM_000527.4(LDLR):c.-140C>A
NC_000019.10:g.11089409C>A
CM000681.2:g.11089409C>A
NC_000019.9:g.11200085C>A
CM000681.1:g.11200085C>A
NC_000019.8:g.11061085C>A
NG_009060.1:g.5029C>A
ENST00000558518.5:c.-140C>A
NM_000527.4:c.-140C>A
NM_001195798.1:c.-140C>A
NM_001195799.1:c.-140C>A
NM_001195800.1:c.-140C>A
NM_001195803.1:c.-140C>A
NR_163945.1:n.251G>T

Uncertain Significance

Met criteria codes 2
PP4 PM2

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): NM_000527.4(LDLR):c.-140C>A variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence code 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). PP4 - Variant meets PM2 and is identified in one index case who fulfill SB criteria for FH from Molecular Genetics Laboratory (Centre for Cardiovascular Surgery and Transplantation) after alternative causes of high cholesterol were excluded.
Met criteria codes
PP4
PP4 - Variant meets PM2 and is identified in one index case who fulfill SB criteria for FH from Molecular Genetics Laboratory (Centre for Cardiovascular Surgery and Transplantation) after alternative causes of high cholesterol were excluded.
PM2
This variant is absent from gnomAD (gnomAD v2.1.1).
Approved on: 2022-08-29
Published on: 2022-12-23
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