Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000527.5(LDLR):c.1167G>A (p.Thr389=)

CA032357

256365 (ClinVar)

Gene: LDLR (HGNC:3949)

Condition: hypercholesterolemia, familial (MONDO:0007750)

Inheritance Mode: Semidominant inheritance

UUID: bda540d2-f8f0-4520-bf4a-f111b5cb9d1b

Approved on: 2023-03-20

Published on: 2023-03-31

HGVS expressions

NM_000527.5:c.1167G>A

NM_000527.5(LDLR):c.1167G>A (p.Thr389=)

NC_000019.10:g.11111620G>A

CM000681.2:g.11111620G>A

NC_000019.9:g.11222296G>A

CM000681.1:g.11222296G>A

NC_000019.8:g.11083296G>A

NG_009060.1:g.27240G>A

ENST00000558518.6:c.1167G>A

ENST00000252444.9:n.1421G>A

ENST00000455727.6:c.663G>A

ENST00000535915.5:c.1044G>A

ENST00000545707.5:c.786G>A

ENST00000557933.5:c.1167G>A

ENST00000558013.5:c.1167G>A

ENST00000558518.5:c.1167G>A

ENST00000560173.1:n.166G>A

ENST00000560467.1:n.647G>A

NM_000527.4:c.1167G>A

NM_001195798.1:c.1167G>A

NM_001195799.1:c.1044G>A

NM_001195800.1:c.663G>A

NM_001195803.1:c.786G>A

NM_001195798.2:c.1167G>A

NM_001195799.2:c.1044G>A

NM_001195800.2:c.663G>A

NM_001195803.2:c.786G>A

Likely Benign

BP7 BP4

BA1 PM2 BS1

Evidence Links 0

Expert Panel

Familial Hypercholesterolemia VCEP

Criteria Specification Information

Criteria Specification: ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Familial Hypercholesterolemia VCEP

The NM_000527.5(LDLR):c.1167G>A (p.Thr389=) variant is classified as likely benign for Familial Hypercholesterolemia by applying evidence codes: BP4, BP7 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: BP4 - No REVEL, splicing evaluation needed. Functional data on splicing not available. A) not on limits B) does not create GT Variant is not predicted to alter splicing BP7 - Variant is synonymous and meets BP4.

BP7

Variant is synonymous and meets BP4.

BP4

No REVEL, splicing evaluation needed. Functional data on splicing not available. A) not on limits B) does not create GT Variant is not predicted to alter splicing

BA1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PM2

African/African American MAF = 0.001324 (0.13%)

BS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

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