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NM_000132.4(F8):c.5143C>G (p.Arg1715Gly) AND Hereditary factor VIII deficiency disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 1992
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000010981.2

Allele description [Variation Report for NM_000132.4(F8):c.5143C>G (p.Arg1715Gly)]

NM_000132.4(F8):c.5143C>G (p.Arg1715Gly)

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.5143C>G (p.Arg1715Gly)
Other names:
F8, ARG1696GLY; R1696G
HGVS:
  • NC_000023.11:g.154928647G>C
  • NG_011403.2:g.99077C>G
  • NM_000132.4:c.5143C>GMANE SELECT
  • NP_000123.1:p.Arg1715Gly
  • LRG_555t1:c.5143C>G
  • LRG_555:g.99077C>G
  • LRG_555p1:p.Arg1715Gly
  • NC_000023.10:g.154156922G>C
  • NG_011403.1:g.99077C>G
  • P00451:p.Arg1715Gly
Protein change:
R1715G; ARG1696GLY
Links:
UniProtKB: P00451#VAR_001142; OMIM: 300841.0185; dbSNP: rs137852439
NCBI 1000 Genomes Browser:
rs137852439
Molecular consequence:
  • NM_000132.4:c.5143C>G - 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
SCV000031208OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 1992) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.

Reiner AP, Thompson AR.

Hum Genet. 1992 Apr;89(1):88-94.

PubMed [citation]
PMID:
1349567

Details of each submission

From OMIM, SCV000031208.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Reiner and Thompson (1992) found this mutation in a patient with 17% factor VIII activity and mild hemophilia A (306700). The mutation was caused by a CGA-to-TGA transition at codon 1696 in exon 14 of the A3 domain, resulting in glycine for arginine-1696. The C-to-T transition follows the rule of CG-to-TG mutations at CG dinucleotides.

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

Last Updated: Oct 26, 2024