U.S. flag

An official website of the United States government

NM_000132.4(F8):c.5950G>C (p.Val1984Leu) AND Hereditary factor VIII deficiency disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001001231.8

Allele description [Variation Report for NM_000132.4(F8):c.5950G>C (p.Val1984Leu)]

NM_000132.4(F8):c.5950G>C (p.Val1984Leu)

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.5950G>C (p.Val1984Leu)
HGVS:
  • NC_000023.11:g.154903954C>G
  • NG_011403.2:g.123770G>C
  • NM_000132.4:c.5950G>CMANE SELECT
  • NP_000123.1:p.Val1984Leu
  • LRG_555t1:c.5950G>C
  • LRG_555:g.123770G>C
  • LRG_555p1:p.Val1984Leu
  • NC_000023.10:g.154132229C>G
  • NG_011403.1:g.123770G>C
Protein change:
V1984L
Links:
dbSNP: rs782504844
NCBI 1000 Genomes Browser:
rs782504844
Molecular consequence:
  • NM_000132.4:c.5950G>C - missense variant - [Sequence Ontology: SO:0001583]

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: 134500; OMIM: 306700

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001158394ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Apr 19, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158394.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The F8 c.5950G>C; p.Val1984Leu variant (rs782504844), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on only three chromosomes (3/204581 alleles) in the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated, but the valine at codon 1984 is highly conserved, and other amino acid substitutions at nearby codons (p.Phe1982Leu, p.Arg1985Gln, p.Lys1986Ile) have been reported in individuals with hemophilia A (Factor VIII database and references therein). However, given the lack of clinical and functional data, the significance of the p.Val1984Leu variant is uncertain at this time. References: Factor VIII database: http://www.factorviii-db.org

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024