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_000133.3(F9):c.580A>G (p.Thr194Ala)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA121125

10588 (ClinVar)

Gene: F9

Condition: hemophilia B

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 3b7d37ef-41c7-478a-a6de-0913aa2c42d9

Approved on: 2024-02-09

Published on: 2024-07-11

HGVS expressions

NM_000133.3:c.580A>G

NM_000133.3(F9):c.580A>G (p.Thr194Ala)

NC_000023.11:g.139551121A>G

CM000685.2:g.139551121A>G

NC_000023.10:g.138633280A>G

CM000685.1:g.138633280A>G

NC_000023.9:g.138460946A>G

NG_007994.1:g.25386A>G

ENST00000218099.7:c.580A>G

ENST00000643157.1:n.1247A>G

ENST00000218099.6:c.580A>G

ENST00000394090.2:c.466A>G

NM_001313913.1:c.466A>G

NM_000133.4:c.580A>G

NM_001313913.2:c.466A>G

Benign

BA1 BP4

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 F9 Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Coagulation Factor Deficiency VCEP

The c.580A>G (p.Thr194Ala) variant is reported at an MAF of 0.3026 (27985/92495 alleles) in the non-Finnish European population in gnomAD v2.1.1 with 2609 homozygotes and 10667 hemizygotes, meeting BA1 criteria of MAF > 0.0000556. Note that gnomAD v3.1.1 reports a frequency of 0.3041 in the NFE population, with 1859 homozygotes and 4024 hemizygotes. This missense variant has a REVEL score of 0.255 (<0.3) and SpliceAI predicts no impact on splicing, with a score of 0.0, meeting BP4 criteria. In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Coagulation Factor Deficiency Variant Curation Expert Panel for F9: BA1, BP4.

BA1

BP4

The Thr194Ala missense variant has a REVEL score of 0.255 (<0.3) and spliceAI predicts no impact on splicing, with a score of 0.0

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.