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.1312-3C>G

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA2573143980

1352569 (ClinVar)

Gene: ENG

Condition: telangiectasia, hereditary hemorrhagic, type 1

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 6abc7a82-280a-496b-8729-7db425eeeebe

Approved on: 2024-03-15

Published on: 2024-03-15

HGVS expressions

NM_001114753.3:c.1312-3C>G

NM_001114753.3(ENG):c.1312-3C>G

NC_000009.12:g.127818835G>C

CM000671.2:g.127818835G>C

NC_000009.11:g.130581114G>C

CM000671.1:g.130581114G>C

NC_000009.10:g.129620935G>C

NG_009551.1:g.40934C>G

ENST00000480266.6:c.766-3C>G

ENST00000373203.9:c.1312-3C>G

ENST00000344849.4:c.1312-3C>G

ENST00000373203.8:c.1312-3C>G

ENST00000480266.5:c.766-3C>G

NM_000118.3:c.1312-3C>G

NM_001114753.2:c.1312-3C>G

NM_001278138.1:c.766-3C>G

NR_136302.1:n.1568+124G>C

NM_001278138.2:c.766-3C>G

Uncertain Significance

PP3 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 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hereditary Hemorrhagic Telangiectasia VCEP

The NM_001114753.3: c.1312-3C>G variant in ENG is an intronic variant located in intron 10. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). The computational splicing predictor SpliceAI gives a score of 0.21 for acceptor loss, predicting that the variant disrupts the acceptor splice site of intron 10 of ENG (PP3). 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, PP3 (specification version 1.0.0; 1/4/2024).

PP3

The computational splicing predictor SpliceAI gives a score of 0.21 for acceptor loss, predicting that the variant disrupts the acceptor splice site of intron 10 of ENG (PP3).

PM2_Supporting

This variant is absent from gnomAD v2.1.1 (PM2_Supporting).

Curation History

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