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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_001114753.3(ENG):c.392C>T (p.Pro131Leu)

CA202695

161232 (ClinVar)

Gene: ENG
Condition: telangiectasia, hereditary hemorrhagic, type 1
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 007c246a-5626-4580-b6dc-c5817c428f04
Approved on: 2024-03-15
Published on: 2024-03-15

HGVS expressions

NM_001114753.3:c.392C>T
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
NC_000009.12:g.127826641G>A
CM000671.2:g.127826641G>A
NC_000009.11:g.130588920G>A
CM000671.1:g.130588920G>A
NC_000009.10:g.129628741G>A
NG_009551.1:g.33128C>T
ENST00000480266.6:c.-155C>T
ENST00000373203.9:c.392C>T
ENST00000344849.4:c.392C>T
ENST00000373203.8:c.392C>T
ENST00000462196.1:n.292C>T
ENST00000480266.5:c.-155C>T
NM_000118.3:c.392C>T
NM_001114753.2:c.392C>T
NM_001278138.1:c.-155C>T
NM_001278138.2:c.-155C>T
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Benign

Met criteria codes 1
BA1
Not Met criteria codes 1
PP3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ENG Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Hereditary Hemorrhagic Telangiectasia VCEP
The NM_001114753.3: c.392C>T variant in ENG is a missense variant predicted to cause substitution of proline by leucine at amino acid 131 (p.Pro131Leu). The filtering allele frequency (the lower threshold of the 95% CI of 762/30612) of the c.392C>T variant in ENG is 0.02343 for South Asian chromosomes by gnomAD v2.1.1, which is higher than the ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel threshold (>0.01) for BA1, and therefore meets this criterion (BA1). The computational predictor REVEL gives a score of 0.315, which is neither above nor below the thresholds predicting a damaging or benign impact on ENG function. In summary, this variant meets the criteria to be classified as benign for autosomal dominant hereditary hemorrhagic telangiectasia based on the ACMG/AMP criteria applied, as specified by the ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel: BA1 (specification version 1.0.0; 1/4/2024).
Met criteria codes
BA1
The filtering allele frequency (the lower threshold of the 95% CI of 762/30612) of the c.392C>T variant in ENG is 0.02343 for South Asian chromosomes by gnomAD v2.1.1, which is higher than the ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel threshold (>0.01) for BA1, and therefore meets this criterion (BA1).
Not Met criteria codes
PP3
The computational predictor REVEL gives a score of 0.315, which is neither above nor below the thresholds predicting a damaging or benign impact on ENG function.
Curation History
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