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]

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Variant: NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)

CA5252673

282707 (ClinVar)

Gene: ENG

Condition: telangiectasia, hereditary hemorrhagic, type 1

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: eb0eb1c1-ca8e-4c63-868c-da6d19d188c9

Approved on: 2024-03-15

Published on: 2024-03-15

HGVS expressions

NM_001114753.3:c.1711C>T

NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)

NC_000009.12:g.127817179G>A

CM000671.2:g.127817179G>A

NC_000009.11:g.130579458G>A

CM000671.1:g.130579458G>A

NC_000009.10:g.129619279G>A

NG_009551.1:g.42590C>T

ENST00000480266.6:c.1165C>T

ENST00000373203.9:c.1711C>T

ENST00000344849.4:c.1711C>T

ENST00000373203.8:c.1711C>T

ENST00000480266.5:c.1165C>T

NM_000118.3:c.1711C>T

NM_001114753.2:c.1711C>T

NM_001278138.1:c.1165C>T

NR_136302.1:n.1114G>A

NM_001278138.2:c.1165C>T

Uncertain Significance

BS1 PP3 PM2

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 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hereditary Hemorrhagic Telangiectasia VCEP

The NM_001114753.3: c.1711C>T variant in ENG is a missense variant predicted to cause substitution of arginine by cysteine at amino acid 571 (p.Arg571Cys). The highest population minor allele frequency in gnomAD v2.1.1 is 0.0004233 (15/35434 alleles) in the Admixed American population. The computational predictor REVEL gives a score of 0.31, 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: None (specification version 1.0.0; 1/4/2024).

BS1

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

PP3

The computational predictor REVEL gives a score of 0.31, which is neither above nor below the thresholds predicting a damaging or benign impact on ENG function.

PM2

The highest population minor allele frequency in gnomAD v2.1.1 is 0.0004233 (15/35434 alleles) in the Admixed American population.

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