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NM_000132.4(F8):c.5101G>A (p.Glu1701Lys) AND Hereditary factor VIII deficiency disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 18, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003988123.1

Allele description [Variation Report for NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)]

NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)

Gene:
F8:coagulation factor VIII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
Other names:
p.Glu1701Lys
HGVS:
  • NC_000023.11:g.154928689C>T
  • NG_011403.2:g.99035G>A
  • NM_000132.4:c.5101G>AMANE SELECT
  • NP_000123.1:p.Glu1701Lys
  • LRG_555t1:c.5101G>A
  • LRG_555:g.99035G>A
  • LRG_555p1:p.Glu1701Lys
  • NC_000023.10:g.154156964C>T
  • NM_000132.3:c.5101G>A
Protein change:
E1701K
Molecular consequence:
  • NM_000132.4:c.5101G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary factor VIII deficiency disease (HEMA)
Synonyms:
AUTOSOMAL HEMOPHILIA A; Hemophilia A; Hemophilia A, congenital; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010602; MedGen: C0019069; Orphanet: 98878; OMIM: 306700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004803515Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Jan 18, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.

Hill M, Deam S, Gordon B, Dolan G.

Haemophilia. 2005 Mar;11(2):133-41.

PubMed [citation]
PMID:
15810915

Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A.

Bowyer AE, Van Veen JJ, Goodeve AC, Kitchen S, Makris M.

Haematologica. 2013 Dec;98(12):1980-7. doi: 10.3324/haematol.2013.088088. Epub 2013 Jun 28.

PubMed [citation]
PMID:
23812942
PMCID:
PMC3856974

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004803515.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: F8 c.5101G>A (p.Glu1701Lys) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 180470 control chromosomes (gnomAD). c.5101G>A has been reported in the literature in male individuals affected with Factor VIII Deficiency (Hemophilia A)(e.g. Hill_2005, Bowyer_2013). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 23812942, 15810915). ClinVar contains an entry for this variant (Variation ID: 2683573). Based on the evidence outlined above, the variant was classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024