NM_000504.4(F10):c.1043G>A (p.Trp348Ter) AND Hereditary factor X deficiency disease

Clinical significance:Uncertain significance (Last evaluated: Nov 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778386.1

Allele description [Variation Report for NM_000504.4(F10):c.1043G>A (p.Trp348Ter)]

NM_000504.4(F10):c.1043G>A (p.Trp348Ter)

Gene:
F10:coagulation factor X [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_000504.4(F10):c.1043G>A (p.Trp348Ter)
HGVS:
  • NC_000013.11:g.113149093G>A
  • NG_009258.1:g.31295G>A
  • NM_000504.4:c.1043G>AMANE SELECT
  • NM_001312674.2:c.911G>A
  • NM_001312675.2:c.*34G>A
  • NP_000495.1:p.Trp348Ter
  • NP_001299603.1:p.Trp304Ter
  • LRG_548t1:c.1043G>A
  • LRG_548:g.31295G>A
  • NC_000013.10:g.113803407G>A
  • NM_000504.3:c.1043G>A
Protein change:
W304*
Links:
dbSNP: rs1566922655
NCBI 1000 Genomes Browser:
rs1566922655
Molecular consequence:
  • NM_001312675.2:c.*34G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000504.4:c.1043G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001312674.2:c.911G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary factor X deficiency disease
Synonyms:
STUART-PROWER FACTOR DEFICIENCY; Congenital factor X deficiency
Identifiers:
MONDO: MONDO:0009212; MedGen: C0272327; Orphanet: 328; OMIM: 227600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000914610Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Nov 7, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000914610.1

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

Description

The F10 c.1043G>A (p.Trp348Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. This variant is located in the last exon and may escape nonsense-mediated decay. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for factor X deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Apr 30, 2021

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