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_000132.4:c.1701del

CA915940891

2775448 (ClinVar)

Gene: F8 (HGNC:2157)

Condition: hemophilia A (MONDO:0010602)

Inheritance Mode: X-linked inheritance

UUID: 00613ee1-1167-4a78-a9ca-54333efc23bb

Approved on: 2024-02-02

Published on: 2024-07-11

HGVS expressions

NM_000132.4:c.1701del

NC_000023.11:g.154957009del

CM000685.2:g.154957009del

NC_000023.10:g.154185284del

CM000685.1:g.154185284del

NC_000023.9:g.153838478del

NG_011403.1:g.70716del

NG_011403.2:g.70716del

ENST00000360256.9:c.1701del

ENST00000647125.1:c.*1577del

ENST00000360256.8:c.1701del

NM_000132.3:c.1701del

Pathogenic

PVS1 PM2_Supporting PS4_Supporting

Evidence Links 0

Expert Panel

Coagulation Factor Deficiency VCEP

Criteria Specification Information

Criteria Specification: ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F8 Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Coagulation Factor Deficiency VCEP

The c.1701del (p.Ile567MetfsTer12) variant is a frameshift variant that is predicted to introduce a premature stop codon in exon 11/26 and expected to result in nonsense-mediated mRNA decay, which meets PVS1 criteria. This variant is completely absent from males in gnomAD v2.1.1 and gnomAD v3 meeting PM2_Supporting criteria. There is one patient from a research cohort with hemophilia A who carries the Ile567MetfsTer12 variant (internal VCEP contributor). In summary, this variant meets criteria to be classified as pathogenic. ACMG/AMP criteria applied, as specified by the Coagulation Factor Deficiency Variant Curation Expert Panel for F8/F9: PVS1, PS4_Supporting, PM2_Supporting.

PVS1

The c.1701del (p.Ile567MetfsTer12) variant is a frameshift variant that is predicted to introduce a premature stop codon in exon 11/26 and expected to result in nonsense-mediated mRNA decay.

PM2_Supporting

The c.1701del (Ile567MetfsTer12) variant is completely absent from males in gnomAD v2.1.1 and gnomAD v3.

PS4_Supporting

There is one patient in a research cohort with hemophilia A with variant.

Curation History

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