NM_000132.4(F8):c.1784T>C (p.Phe595Ser) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
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:: RCV001265091.1

Allele description [Variation Report for NM_000132.4(F8):c.1784T>C (p.Phe595Ser)]

NM_000132.4(F8):c.1784T>C (p.Phe595Ser)

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.1784T>C (p.Phe595Ser)

HGVS:

NC_000023.11:g.154954011A>G
NG_011403.1:g.73713T>C
NM_000132.4:c.1784T>CMANE SELECT
NP_000123.1:p.Phe595Ser
LRG_555t1:c.1784T>C
LRG_555p1:p.Phe595Ser
NC_000023.10:g.154182286A>G
NM_000132.3:c.1784T>C

Protein change:

F595S

Links:

dbSNP: rs2073351165

NCBI 1000 Genomes Browser:

rs2073351165

Molecular consequence:

NM_000132.4:c.1784T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001424884	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 (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001424884

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 (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
Causasians	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile.

Santagostino E, Mancuso ME, Tripodi A, Chantarangkul V, Clerici M, Garagiola I, Mannucci PM.

J Thromb Haemost. 2010 Apr;8(4):737-43. doi: 10.1111/j.1538-7836.2010.03767.x. Epub 2009 Jan 21.

PubMed [citation]

PMID:: 20102490

Details of each submission

From Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, SCV001424884.1

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

#	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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