NM_000132.4(F8):c.5882G>A (p.Trp1961Ter) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1993
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:: RCV000011009.6

Allele description [Variation Report for NM_000132.4(F8):c.5882G>A (p.Trp1961Ter)]

NM_000132.4(F8):c.5882G>A (p.Trp1961Ter)

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.5882G>A (p.Trp1961Ter)

Other names:

F8, TRP1961TER

HGVS:

NC_000023.11:g.154904022C>T
NG_011403.2:g.123702G>A
NM_000132.4:c.5882G>AMANE SELECT
NP_000123.1:p.Trp1961Ter
NP_000123.1:p.Trp1961Ter
LRG_555t1:c.5882G>A
LRG_555:g.123702G>A
LRG_555p1:p.Trp1961Ter
NC_000023.10:g.154132297C>T
NG_011403.1:g.123702G>A
NM_000132.3:c.5882G>A

Protein change:

W1961*; TRP1961TER

Links:

OMIM: 300841.0213; dbSNP: rs137852449

NCBI 1000 Genomes Browser:

rs137852449

Molecular consequence:

NM_000132.4:c.5882G>A - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031236	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1993)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8307558, 6438527

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031236

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1993)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Characterization of genetic defects of hemophilia A in patients of Chinese origin.

Lin SW, Lin SR, Shen MC.

Genomics. 1993 Dec;18(3):496-504.

PubMed [citation]

PMID:: 8307558

Structure of human factor VIII.

Vehar GA, Keyt B, Eaton D, Rodriguez H, O'Brien DP, Rotblat F, Oppermann H, Keck R, Wood WI, Harkins RN, Tuddenham EG, Lawn RM, Capon DJ.

Nature. 1984 Nov 22-28;312(5992):337-42.

PubMed [citation]

PMID:: 6438527

Details of each submission

From OMIM, SCV000031236.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with hemophilia A (306700), Lin et al. (1993) identified the substitution of TGG-to-TAG at codon 1942 in exon 18, resulting in a stop codon. Including the 19-amino acid signal peptide of the F8 gene (Vehar et al., 1984), this mutation is designated trp1961-to-ter (W1961X).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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