NM_000132.4(F8):c.5719dup (p.Ser1907fs) AND Hereditary factor VIII deficiency disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 1991
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:
RCV000011006.5

Allele description [Variation Report for NM_000132.4(F8):c.5719dup (p.Ser1907fs)]

NM_000132.4(F8):c.5719dup (p.Ser1907fs)

Gene:
F8:coagulation factor VIII [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000132.4(F8):c.5719dup (p.Ser1907fs)
Other names:
F8, 1-BP INS, FS
HGVS:
  • NC_000023.11:g.154904395dup
  • NG_011403.2:g.123332dup
  • NM_000132.4:c.5719dupMANE SELECT
  • NP_000123.1:p.Ser1907fs
  • LRG_555t1:c.5719dup
  • LRG_555:g.123332dup
  • LRG_555p1:p.Ser1907fs
  • NC_000023.10:g.154132670dup
  • NG_011403.1:g.123332_123333insA
  • NG_011403.1:g.123332dup
Protein change:
S1907fs
Links:
OMIM: 300841.0210; dbSNP: rs387906459
NCBI 1000 Genomes Browser:
rs387906459
Molecular consequence:
  • NM_000132.4:c.5719dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000031233OMIM
no assertion criteria provided
Pathogenic
(Aug 15, 1991) 		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

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

Higuchi M, Kazazian HH Jr, Kasch L, Warren TC, McGinniss MJ, Phillips JA 3rd, Kasper C, Janco R, Antonarakis SE.

Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7405-9.

PubMed [citation]
PMID:
1908096
PMCID:
PMC52304

Details of each submission

From OMIM, SCV000031233.1

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

Description

Higuchi et al. (1991) identified in 1 patient with severe hemophilia A (306700) the insertion of 1 nucleotide (A) at codon 1907 in exon resulting in a frameshift.

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

Last Updated: Oct 26, 2024