NM_000132.4(F8):c.6699del (p.Arg2234fs) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1995
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:: RCV000011039.3

Allele description [Variation Report for NM_000132.4(F8):c.6699del (p.Arg2234fs)]

NM_000132.4(F8):c.6699del (p.Arg2234fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000132.4(F8):c.6699del (p.Arg2234fs)

Other names:

F8, 1-BP DEL, FS

HGVS:

NC_000023.11:g.154861744del
NG_011403.2:g.165982del
NM_000132.4:c.6699delMANE SELECT
NM_019863.3:c.294del
NP_000123.1:p.Arg2234fs
NP_063916.1:p.Arg99fs
LRG_555t1:c.6699del
LRG_555:g.165982del
LRG_555p1:p.Arg2234fs
NC_000023.10:g.154090019del
NG_011403.1:g.165982del

Protein change:

R2234fs

Links:

OMIM: 300841.0243; dbSNP: rs387906464

NCBI 1000 Genomes Browser:

rs387906464

Molecular consequence:

NM_000132.4:c.6699del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_019863.3:c.294del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031266	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1995)	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

SCV000031266

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1995)

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

Molecular etiology of factor VIII deficiency in hemophilia A.

Antonarakis SE, Kazazian HH, Tuddenham EG.

Hum Mutat. 1995;5(1):1-22. Review.

PubMed [citation]

PMID:: 7728145

Details of each submission

From OMIM, SCV000031266.1

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

Description

Antonarakis et al. (1995) reported in 1 patient with severe hemophilia A (306700) the deletion of 1 nucleotide (G) resulting in a frameshift downstream from codon 2214 in exon 24.

#	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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