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NM_000132.4(F8):c.6868T>C (p.Trp2290Arg) 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:
RCV001265085.1

Allele description [Variation Report for NM_000132.4(F8):c.6868T>C (p.Trp2290Arg)]

NM_000132.4(F8):c.6868T>C (p.Trp2290Arg)

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.6868T>C (p.Trp2290Arg)
HGVS:
  • NC_000023.11:g.154860464A>G
  • NG_011403.2:g.167260T>C
  • NM_000132.4:c.6868T>CMANE SELECT
  • NM_019863.3:c.463T>C
  • NP_000123.1:p.Trp2290Arg
  • NP_063916.1:p.Trp155Arg
  • LRG_555t1:c.6868T>C
  • LRG_555:g.167260T>C
  • LRG_555p1:p.Trp2290Arg
  • NC_000023.10:g.154088739A>G
  • NG_011403.1:g.167260T>C
  • NM_000132.3:c.6868T>C
Protein change:
W155R
Links:
dbSNP: rs2072681848
NCBI 1000 Genomes Browser:
rs2072681848
Molecular consequence:
  • NM_000132.4:c.6868T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019863.3:c.463T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001424873Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
no assertion criteria provided
Pathogenic
(Jun 1, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Causasiansgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative.

Johnsen JM, Fletcher SN, Huston H, Roberge S, Martin BK, Kircher M, Josephson NC, Shendure J, Ruuska S, Koerper MA, Morales J, Pierce GF, Aschman DJ, Konkle BA.

Blood Adv. 2017 May 23;1(13):824-834. doi: 10.1182/bloodadvances.2016002923.

PubMed [citation]
PMID:
29296726
PMCID:
PMC5727804

The prevalence of factor VIII inhibitors and genetic aspects of inhibitor development in Chinese patients with haemophilia A.

Wang XF, Zhao YQ, Yang RC, Wu JS, Sun J, Zhang XS, Ding QL, Ge HL, Wang HL.

Haemophilia. 2010 Jul 1;16(4):632-9. doi: 10.1111/j.1365-2516.2010.02211.x. Epub 2010 Mar 12.

PubMed [citation]
PMID:
20331753

Details of each submission

From Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, SCV001424873.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024