NM_000132.4(F8):c.1596dup (p.Thr533fs) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 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:: RCV000010933.3

Allele description [Variation Report for NM_000132.4(F8):c.1596dup (p.Thr533fs)]

NM_000132.4(F8):c.1596dup (p.Thr533fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000132.4(F8):c.1596dup (p.Thr533fs)

Other names:

F8, 1-BP INS, FS

HGVS:

NC_000023.11:g.154957114dup
NG_011403.2:g.70611dup
NM_000132.4:c.1596dupMANE SELECT
NP_000123.1:p.Thr533fs
LRG_555t1:c.1596dup
LRG_555:g.70611dup
LRG_555p1:p.Thr533fs
NC_000023.10:g.154185389dup
NG_011403.1:g.70611_70612insG
NG_011403.1:g.70611dup

Protein change:

T533fs

Links:

OMIM: 300841.0137; dbSNP: rs387906445

NCBI 1000 Genomes Browser:

rs387906445

Molecular consequence:

NM_000132.4:c.1596dup - 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

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
SCV000031160	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1992)	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

SCV000031160

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1992)

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

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).

Economou EP, Kazazian HH Jr, Antonarakis SE.

Genomics. 1992 Jul;13(3):909-11. No abstract available.

PubMed [citation]

PMID:: 1639429

Details of each submission

From OMIM, SCV000031160.1

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

Description

In a patient with severe hemophilia A (306700), Economou et al. (1992) identified the insertion of 1 nucleotide (G), resulting in a frameshift downstream from codon 513 or 514 in exon 11.

#	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

ClinVar

Relating variation to medicine