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_001114753.3(ENG):c.1900T>G (p.Ser634Ala)

CA200301183

1782310 (ClinVar)

Gene: ENG (HGNC:2022)

Condition: telangiectasia, hereditary hemorrhagic, type 1 (MONDO:0008535)

Inheritance Mode: Autosomal dominant inheritance

UUID: e762ece6-50cd-4694-b3b6-8ec9b6dca3ff

Approved on: 2026-04-10

Published on: 2026-08-28

HGVS expressions

NM_001114753.3(ENG):c.1900T>G (p.Ser634Ala)

NM_001114753.3:c.1900T>G

NC_000009.12:g.127815759A>C

CM000671.2:g.127815759A>C

NC_000009.11:g.130578038A>C

CM000671.1:g.130578038A>C

NC_000009.10:g.129617859A>C

NG_009551.1:g.44010T>G

NG_023245.1:g.17885A>C

ENST00000480266.6:c.1354T>G

ENST00000373203.9:c.1900T>G

ENST00000344849.4:c.*158T>G

ENST00000373203.8:c.1900T>G

ENST00000480266.5:c.1354T>G

NM_000118.3:c.*158T>G

NM_001114753.2:c.1900T>G

NM_001278138.1:c.1354T>G

NM_001278138.2:c.1354T>G

Uncertain Significance

PM2_Supporting

Evidence Links 0

Expert Panel

Hereditary Hemorrhagic Telangiectasia VCEP

Criteria Specification Information

Criteria Specification: ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ENG Version 1.1.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hereditary Hemorrhagic Telangiectasia VCEP

The NM_001114753.3: c.1900T>G variant in ENG is a missense variant predicted to cause substitution of serine by alanine at amino acid 634 (p.Ser634Ala). This variant has not been observed in gnomAD v2.1 (PM2_Supporting). The computational predictor REVEL gives a score of 0.158, 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 a variant of uncertain significance 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: PM2_Supporting (specifications version 1.1.0; 04/10/2026).

PM2_Supporting

This variant has not been observed in gnomAD v2.1 (PM2_Supporting).

Curation History

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