NM_000132.4(F8):c.5961del (p.Glu1988fs) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 1, 2019
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:: RCV000011014.3

Allele description [Variation Report for NM_000132.4(F8):c.5961del (p.Glu1988fs)]

NM_000132.4(F8):c.5961del (p.Glu1988fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000132.4(F8):c.5961del (p.Glu1988fs)

Other names:

F8, 1-BP DEL, FS

HGVS:

NC_000023.11:g.154903949del
NG_011403.2:g.123781del
NM_000132.4:c.5961delMANE SELECT
NP_000123.1:p.Glu1988fs
NP_000123.1:p.Glu1988fs
LRG_555t1:c.5961del
LRG_555:g.123781del
LRG_555p1:p.Glu1988fs
NC_000023.10:g.154132224del
NG_011403.1:g.123781del
NM_000132.3:c.5961del

Protein change:

E1988fs

Links:

OMIM: 300841.0218; dbSNP: rs387906460

NCBI 1000 Genomes Browser:

rs387906460

Molecular consequence:

NM_000132.4:c.5961del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000031241	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001424865	Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	no assertion criteria provided	Pathogenic (Jun 1, 2019)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 8644728, 15741993, 12204009, 18691168, 29296726, 18387975, 21883705

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031241

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1995)

germline

literature only

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

SCV001424865

Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

no assertion criteria provided

Pathogenic
(Jun 1, 2019)

germline

clinical testing

PubMed (7)
[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
Causasians	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

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

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

Becker J, Schwaab R, Möller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, Olek K, Oldenburg J.

Am J Hum Genet. 1996 Apr;58(4):657-70.

PubMed [citation]

PMID:: 8644728
PMCID:: PMC1914681

See all PubMed Citations (8)

Details of each submission

From OMIM, SCV000031241.1

#	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) identified in 2 patients with severe hemophilia A (306700) the deletion of 1 nucleotide (A) resulting in a frameshift downstream from codon 1967-1968 in exon 19.

#	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

From Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, SCV001424865.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Causasians	1	not provided	not provided	clinical testing	PubMed (7)

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

Last Updated: Oct 26, 2024

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