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.391+7A>G

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10529780

367999 (ClinVar)

Gene: F9

Condition: hemophilia B

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 15923ce8-181e-4d4a-b2d0-dd707c65b8cb

Approved on: 2024-02-09

Published on: 2024-07-11

HGVS expressions

NM_000133.3:c.391+7A>G

NM_000133.3(F9):c.391+7A>G

NC_000023.11:g.139541196A>G

CM000685.2:g.139541196A>G

NC_000023.10:g.138623355A>G

CM000685.1:g.138623355A>G

NC_000023.9:g.138451021A>G

NG_007994.1:g.15461A>G

ENST00000218099.7:c.391+7A>G

ENST00000218099.6:c.391+7A>G

ENST00000394090.2:c.277+3810A>G

ENST00000479617.2:n.344+7A>G

NM_001313913.1:c.277+3810A>G

NM_000133.4:c.391+7A>G

NM_001313913.2:c.277+3810A>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.391+7A>G variant is reported at an MAF of 0.1296 (2458/18960 alleles) in the African/African-American population in gnomAD v2.1.1 with 620 hemizygotes and 123 homozygotes, meeting BA1 criteria of MAF > 0.0000556. SpliceAI predicts WT canonical donor loss at -7bp with a delta score of 0.05; however, does not meet criteria for PP3 or BP4. 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.

BA1

BP4

SpliceAI predicts WT canonical donor loss at -7bp with a delta score of 0.05, and does not meet criteria for BP4.

Curation History

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