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_000133.4(F9):c.51C>T (p.Ile17=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10529714

697610 (ClinVar)

Gene: F9

Condition: hemophilia B

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: aa18502e-2631-4d78-8a48-f05bee4c1509

Approved on: 2024-02-09

Published on: 2024-07-11

HGVS expressions

NM_000133.4:c.51C>T

NM_000133.4(F9):c.51C>T (p.Ile17=)

NC_000023.11:g.139530815C>T

CM000685.2:g.139530815C>T

NC_000023.10:g.138612974C>T

CM000685.1:g.138612974C>T

NC_000023.9:g.138440640C>T

NG_007994.1:g.5080C>T

ENST00000218099.7:c.51C>T

ENST00000218099.6:c.51C>T

ENST00000394090.2:c.51C>T

ENST00000479617.2:n.58C>T

NM_000133.3:c.51C>T

NM_001313913.1:c.51C>T

NM_001313913.2:c.51C>T

Benign

BA1

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 NM_000133.4:c.51C>T (p.Ile17=) synonymous variant is reported at a high MAF of 0.004462 (125/28017 alleles with 31 hemizygotes) in the Latino population of gnomAD v2.1.1, meeting the BA1 cut-off of >/= 0.0000556. In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Coagulation Factor Deficiency VCEP for F9: BA1.

BA1

The synonymous variant is reported at a frequency of 0.004462 (125/28017 alleles with 31 hemizygotes) within the Latino population of gnomAD v2.1.1, which is greater than the cut-off for BA1, >/= 0.0000556.

Curation History

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