NM_000132.3(F8):c.43C>T (p.Arg15Ter) AND Hereditary factor VIII deficiency disease

This record was updated by the submitter. Please see the current version.

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:: RCV000010865.6

Allele description

NM_000132.3(F8):c.43C>T (p.Arg15Ter)

Gene:

F8:coagulation factor VIII [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000132.3(F8):c.43C>T (p.Arg15Ter)

Other names:

F8, ARG-5TER

HGVS:

NC_000023.11:g.155022510G>A
NG_011403.1:g.5214C>T
NM_000132.3:c.43C>T
NP_000123.1:p.Arg15Ter
NC_000023.10:g.154250785G>A
NP_000123.1:p.Arg15*

Protein change:

R15*

Links:

OMIM: 300841.0069; dbSNP: rs387906432

NCBI 1000 Genomes Browser:

rs387906432

Molecular consequence:

NM_000132.3:c.43C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary factor VIII deficiency disease (HEMA)
Synonyms:: HEMOPHILIA A, SEVERE; Hemophilia A
Identifiers:: MedGen: C0019069; Orphanet: 98878; OMIM: 306700

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031092	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 1992)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1979502, 1349567

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031092

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 1992)

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

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene.

Pattinson JK, Millar DS, McVey JH, Grundy CB, Wieland K, Mibashan RS, Martinowitz U, Tan-Un K, Vidaud M, Goossens M, et al.

Blood. 1990 Dec 1;76(11):2242-8.

PubMed [citation]

PMID:: 1979502

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, SCV000031092.1

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

Description

In 2 patients with hemophilia A (306700), Pattinson et al. (1990) identified mutation of CGA to TGA at codon -5 in exon 1, resulting in a stop codon. The C-to-T transition follows the rule of CG-to-TG mutations at CG dinucleotides. This mutation has also been found by others (Reiner and Thompson, 1992).

#	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: Nov 2, 2019

ClinVar

Relating variation to medicine