Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_000132.4(F8):c.6724G>A (p.Val2242Met)

CA10567761

225353 (ClinVar)

Gene: F8
Condition: hemophilia A
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: e43b0be5-4e21-410b-aad2-831492908102
Approved on: 2024-10-11
Published on: 2024-10-11

HGVS expressions

NM_000132.4:c.6724G>A
NM_000132.4(F8):c.6724G>A (p.Val2242Met)
NC_000023.11:g.154860608C>T
CM000685.2:g.154860608C>T
NC_000023.10:g.154088883C>T
CM000685.1:g.154088883C>T
NC_000023.9:g.153742077C>T
NG_011403.1:g.167116G>A
NG_011403.2:g.167116G>A
ENST00000360256.9:c.6724G>A
ENST00000644698.1:c.457G>A
ENST00000330287.10:c.319G>A
ENST00000360256.8:c.6724G>A
NM_000132.3:c.6724G>A
NM_019863.2:c.319G>A
NM_019863.3:c.319G>A
More

Benign

Met criteria codes 1
BA1
Not Met criteria codes 2
PS4 PP4

Evidence Links 0

Expert Panel

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.6724G>A variant in F8 is a missense variant predicted to cause substitution of Valine by Methionine at amino acid 2242 (p.Val2242Met), affecting the first nucleotide in exon 25. The c.6724G>A (p.Val2242Met) variant is reported at an MAF of 0.006735 (100/14847 alleles) in the East Asian population in gnomAD v2.1.1, with 32 hemizygotes, meeting BA1 criteria of MAF >= 0.000333. In summary, this variant is classified as a Benign for Hemophilia A based on the ACMG/AMP criteria applied, as specified by the Coagulation Factor Deficiency Variant Curation Expert Panel for F8 (version 1.0.0, released 10/5/2023): BA1.
Met criteria codes
BA1
The c.6724G>A (p.Val2242Met) variant is reported at an MAF of 0.006735 (100/14847 alleles) in the East Asian population in gnomAD v2.1.1, with 32 hemizygotes, meeting BA1 criteria of MAF >= 0.000333
Not Met criteria codes
PS4
Since over 3 males seen with this variant in gnomAD, this code cannot be applied according to the CFD VCEP specification guidelines.
PP4
This code cannot be applied to variants meeting BA1 criteria, as per CFD VCEP specification guidelines
Curation History
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