NM_000132.4(F8):c.1417T>C (p.Tyr473His) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 1991
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:: RCV000010927.4

Allele description [Variation Report for NM_000132.4(F8):c.1417T>C (p.Tyr473His)]

NM_000132.4(F8):c.1417T>C (p.Tyr473His)

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.1417T>C (p.Tyr473His)

Other names:

F8, TYR473HIS

HGVS:

NC_000023.11:g.154965996A>G
NG_011403.1:g.61728T>C
NG_011403.2:g.61728T>C
NM_000132.4:c.1417T>CMANE SELECT
NP_000123.1:p.Tyr473His
LRG_555t1:c.1417T>C
LRG_555:g.61728T>C
LRG_555p1:p.Tyr473His
NC_000023.10:g.154194271A>G

Protein change:

Y473H; TYR473HIS

Links:

OMIM: 300841.0131; dbSNP: rs387906443

NCBI 1000 Genomes Browser:

rs387906443

Molecular consequence:

NM_000132.4:c.1417T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary factor VIII deficiency disease (HEMA)
Synonyms:: Hemophilia A; Hemophilia A, congenital; Hemophilia, classic; 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
SCV000031154	OMIM	no assertion criteria provided	Pathogenic (Aug 15, 1991)	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

SCV000031154

OMIM

no assertion criteria provided

Pathogenic
(Aug 15, 1991)

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 characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

Higuchi M, Kazazian HH Jr, Kasch L, Warren TC, McGinniss MJ, Phillips JA 3rd, Kasper C, Janco R, Antonarakis SE.

Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7405-9.

PubMed [citation]

PMID:: 1908096
PMCID:: PMC52304

Details of each submission

From OMIM, SCV000031154.1

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

Description

Higuchi et al. (1991) found this mutation in a patient with mild hemophilia A (306700). The mutation is caused by a TAT-to-CAT transition at codon 473 in exon 10 of the A2 domain, resulting in histidine for tyrosine-473.

#	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: Apr 23, 2022

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