NM_000132.4(F8):c.5677C>T (p.Gln1893Ter) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 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:: RCV000011004.4

Allele description [Variation Report for NM_000132.4(F8):c.5677C>T (p.Gln1893Ter)]

NM_000132.4(F8):c.5677C>T (p.Gln1893Ter)

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.5677C>T (p.Gln1893Ter)

Other names:

F8, GLN1874TER; Q1874*

HGVS:

NC_000023.11:g.154904434G>A
NG_011403.2:g.123290C>T
NM_000132.4:c.5677C>TMANE SELECT
NP_000123.1:p.Gln1893Ter
LRG_555t1:c.5677C>T
LRG_555:g.123290C>T
LRG_555p1:p.Gln1893Ter
NC_000023.10:g.154132709G>A
NG_011403.1:g.123290C>T

Protein change:

Q1893*; GLN1874TER

Links:

OMIM: 300841.0208; dbSNP: rs137852448

NCBI 1000 Genomes Browser:

rs137852448

Molecular consequence:

NM_000132.4:c.5677C>T - 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
SCV000031231	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1993)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031231

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1993)

germline

literature only

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

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

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions.

Naylor J, Brinke A, Hassock S, Green PM, Giannelli F.

Hum Mol Genet. 1993 Nov;2(11):1773-8.

PubMed [citation]

PMID:: 8281136

Details of each submission

From OMIM, SCV000031231.2

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

Description

In 1 patient with hemophilia A (306700) and inhibitors, Naylor et al. (1993) identified the substitution of CAG-to-TAG at codon 1874 in exon 17, resulting in a stop codon.

#	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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