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 related information was provided by the message!
  • No CSPEC computed assertion could be determined for this classification!
  • See Evidence submitted by expert panel for details.

Variant: NM_000527.4(LDLR):c.-97G>A

CA305287338

430743 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: 76d55e8f-12cb-4c61-b565-dd73f7cf96fb
Approved on: 2022-08-29
Published on: 2022-12-23

HGVS expressions

NM_000527.4(LDLR):c.-97G>A
NC_000019.10:g.11089452G>A
CM000681.2:g.11089452G>A
NC_000019.9:g.11200128G>A
CM000681.1:g.11200128G>A
NC_000019.8:g.11061128G>A
NG_009060.1:g.5072G>A
ENST00000559340.2:c.-97G>A
ENST00000558518.5:c.-97G>A
NM_000527.4:c.-97G>A
NM_001195798.1:c.-97G>A
NM_001195799.1:c.-97G>A
NM_001195800.1:c.-97G>A
NM_001195803.1:c.-97G>A
NR_163945.1:n.208C>T
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Uncertain Significance

Met criteria codes 3
PP4 PM2 PS4_Supporting
Not Met criteria codes 1
PP1

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.-97G>A is a LDLR-AS1 Non Coding Transcript Variant and is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes PM2 and BP4 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 follow: PM2_Met : absent from controls in GnomAD (gnomAD v2.1.1). PP4_Met : 1 index case with Dutch lipid clinic network >=6 PS4_supporting: variant met PM2 and was found in 1 index case with Dutch lipid clinic network >=6 (sequenced by progenica) from M.Arca Lab and 1 patient from Lille University & CHRU Lille (ClinVar entry) with Dutch Lipid Clinic Scoring of Probable FH
Met criteria codes
PP4
1 index case with Dutch lipid clinic network >=6
PM2
absent from controls in GnomAD (gnomAD v2.1.1).
PS4_Supporting
variant met PM2 and was found in 1 index case with Dutch lipid clinic network >=6 (sequenced by progenica) from M.Arca Lab and 1 patient from Lille University & CHRU Lille (ClinVar entry) wiìth Dutch Lipid Clinic Scoring of Probable FH
Not Met criteria codes
PP1
the variant does not segregate with disease. The variant was assessed only in one relative without the phenotype in whom the variant was not found.
Curation History
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