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 computer assertion could be determined for this classification!

Variant: NM_001313913.2:c.88+75A>G

CA336128584

2775452 (ClinVar)

Gene: F9
Condition: hemophilia B
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 9d856b55-8104-4264-917e-e85f2226a1e8
Approved on: 2024-02-09
Published on: 2024-07-11

HGVS expressions

NM_001313913.2:c.88+75A>G
NC_000023.11:g.139530927A>G
CM000685.2:g.139530927A>G
NC_000023.10:g.138613086A>G
CM000685.1:g.138613086A>G
NC_000023.9:g.138440752A>G
NG_007994.1:g.5192A>G
ENST00000218099.7:c.88+75A>G
ENST00000218099.6:c.88+75A>G
ENST00000394090.2:c.88+75A>G
ENST00000479617.2:n.95+75A>G
NM_000133.3:c.88+75A>G
NM_001313913.1:c.88+75A>G
NM_000133.4:c.88+75A>G
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Benign

Met criteria codes 2
BP4 BA1
Not Met criteria codes 1
BP7

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 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.88+75A>G variant is reported at an MAF of 0.1727 (1595/9236 alleles) in the Latino population in gnomAD v3 with 580 hemizygotes and 103 homozygotes, meeting BA1 criteria of MAF > 0.0000556. The variant is listed as a polymorphism in the EAHAD database. SpliceAI predicts no impact on splicing, which meets the 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.
Met criteria codes
BP4
SpliceAI predicts no impact on splicing.
BA1
The c.88+75A>G variant is reported at an MAF of 0.1727 (1595/9236 alleles) in the Latino population in gnomAD v3 with 580 hemizygotes and 103 homozygotes, meeting BA1 criteria of MAF > 0.0000556. Note, the variant is reported in gnomAD v2.1.1 at higher MAFs, however the criterion for 2000 minimum alleles is not met.
Not Met criteria codes
BP7
Splice AI predicts no splicing impact. PhyloP score of 0.92 and PhastCons score of 0.04 suggest weak conservation; however criteria for BP7 not met.
Curation History
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