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.3280G>A (p.Glu1094Lys)

CA10568231

794089 (ClinVar)

Gene: F8
Condition: hemophilia A
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: ea7de5f1-76ce-4cfd-a1e4-05090c75fa94
Approved on: 2025-03-10
Published on: 2025-03-10

HGVS expressions

NM_000132.4:c.3280G>A
NM_000132.4(F8):c.3280G>A (p.Glu1094Lys)
NC_000023.11:g.154930510C>T
CM000685.2:g.154930510C>T
NC_000023.10:g.154158785C>T
CM000685.1:g.154158785C>T
NC_000023.9:g.153811979C>T
NG_011403.1:g.97214G>A
NG_011403.2:g.97214G>A
ENST00000360256.9:c.3280G>A
ENST00000647125.1:c.*2946G>A
ENST00000360256.8:c.3280G>A
NM_000132.3:c.3280G>A
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Benign

Met criteria codes 1
BA1
Not Met criteria codes 2
BP4 PP3

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.3280G>A variant in F8 is a missense variant predicted to cause substitution of Glutamate by Lysine at amino acid 1094 (p.Glu1094Lys). The highest population minor allele frequency in gnomAD v2.1.1 is 0.001817 (27/14858 alleles) with 9 hemizygotes in the East Asian population, which is higher than the ClinGen Coagulation Factor Deficiency VCEP threshold (>=0.000333) for BA1, and therefore meets this criterion (BA1). In gnomAD version 4.1.1, the highest population MAF is 0.0006807 (23/33788 alleles) with 8 hemizygotes in the East Asian population. In summary, this variant meets the criteria to be classified as benign for Hemophilia A based on the ACMG/AMP criteria applied, as specified by the ClinGen Coagulation Factor Deficiency VCEP (version 1.0.0, released 10/5/2023): BA1.
Met criteria codes
BA1
The highest population minor allele frequency in gnomAD v2.1.1 is 0.001817 (27/14858 alleles) with 9 hemizygotes in the East Asian population, which is higher than the ClinGen Coagulation Factor Deficiency VCEP threshold (>=0.000333) for BA1, and therefore meets this criterion (BA1). In gnomAD version 4.1.1 MAF is 0.0006807 (23/33788 alleles) with 8 hemizygotes in the East Asian population.
Not Met criteria codes
BP4
The computational predictor REVEL gives a score of 0.458, which is neither above nor below the thresholds predicting a damaging (>=0.6) or benign impact (<=0.3) on F8 function. Splice AI Score = 0, 0, 0, 0.
PP3
The computational predictor REVEL gives a score of 0.458, which is neither above nor below the thresholds predicting a damaging (>=0.6) or benign impact (<=0.3) on F8 function. Splice AI Score = 0, 0, 0, 0.
Curation History
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