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.1194C>T (p.Ile398=)

CA033001

224620 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: 8ef9f316-9ab5-49b9-8eb2-cea7a1ccbdb5
Approved on: 2022-07-22
Published on: 2024-12-02

HGVS expressions

NM_000527.5:c.1194C>T
NM_000527.5(LDLR):c.1194C>T (p.Ile398=)
NC_000019.10:g.11113285C>T
CM000681.2:g.11113285C>T
NC_000019.9:g.11223961C>T
CM000681.1:g.11223961C>T
NC_000019.8:g.11084961C>T
NG_009060.1:g.28905C>T
ENST00000252444.10:c.1452C>T
ENST00000559340.2:c.1194C>T
ENST00000560467.2:c.1074C>T
ENST00000558518.6:c.1194C>T
ENST00000252444.9:c.1448C>T
ENST00000455727.6:c.690C>T
ENST00000535915.5:c.1071C>T
ENST00000545707.5:c.813C>T
ENST00000557933.5:c.1194C>T
ENST00000558013.5:c.1194C>T
ENST00000558518.5:c.1194C>T
ENST00000560173.1:n.193C>T
ENST00000560467.1:c.674C>T
NM_000527.4:c.1194C>T
NM_001195798.1:c.1194C>T
NM_001195799.1:c.1071C>T
NM_001195800.1:c.690C>T
NM_001195803.1:c.813C>T
NM_001195798.2:c.1194C>T
NM_001195799.2:c.1071C>T
NM_001195800.2:c.690C>T
NM_001195803.2:c.813C>T
More

Likely Benign

Met criteria codes 3
BS1 BP7 BP4

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.1194C>T (p.Ile398=) variant is classified as Likely Benign for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes BS1, BP4 and BP7 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on 22 July 2022. The supporting evidence is as follows: BS1 - FAF = 0.00448 (0.448%) in East Asian exomes (gnomAD v2.1.1). BP4 - No REVEL, splicing evaluation required. Functional data on splicing not available. Variant is not located within the limits of canonical splicing sites Variant is exonic and at least 50bp upstream from canonical donor site but does not creates AG There is no AG Nearby Variant is not predicted to alter splicing. BP7 - Variant is synonymous and meets BP4
Met criteria codes
BS1
FAF = 0.00448 (0.448%) in East Asian exomes (gnomAD v2.1.1).
BP7
Variant is synonymous and meets BP4.
BP4
No REVEL, splicing evaluation required. Functional data on splicing not available. Variant is not located within the limits of canonical plicing sites Variant is exonic and at least 50bp upstream from canonical donor site but does not creates AG There is no AG Nearby Variant is not predicted to alter splicing.
Curation History
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