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NM_000504.4(F10):c.1351A>C (p.Ile451Leu) AND Hereditary factor X deficiency disease

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002222132.2

Allele description [Variation Report for NM_000504.4(F10):c.1351A>C (p.Ile451Leu)]

NM_000504.4(F10):c.1351A>C (p.Ile451Leu)

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.1351A>C (p.Ile451Leu)
HGVS:
  • NC_000013.11:g.113149401A>C
  • NG_009258.1:g.31603A>C
  • NM_000504.4:c.1351A>CMANE SELECT
  • NM_001312674.2:c.1219A>C
  • NM_001312675.2:c.*342A>C
  • NP_000495.1:p.Ile451Leu
  • NP_001299603.1:p.Ile407Leu
  • LRG_548t1:c.1351A>C
  • LRG_548:g.31603A>C
  • NC_000013.10:g.113803715A>C
  • NM_000504.3:c.1351A>C
Protein change:
I407L
Links:
dbSNP: rs369872236
NCBI 1000 Genomes Browser:
rs369872236
Molecular consequence:
  • NM_001312675.2:c.*342A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000504.4:c.1351A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001312674.2:c.1219A>C - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002499583ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicunknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, Freson K.

J Thromb Haemost. 2021 Oct;19(10):2612-2617. doi: 10.1111/jth.15459. Epub 2021 Aug 5. Erratum in: J Thromb Haemost. 2023 Apr;21(4):1067. doi: 10.1016/j.jtha.2023.01.021.

PubMed [citation]
PMID:
34355501
PMCID:
PMC9291976

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002499583.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024