NM_000128.3(F11):c.730C>T (p.Gln244Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001248521.2

Allele description [Variation Report for NM_000128.3(F11):c.730C>T (p.Gln244Ter)]

NM_000128.3(F11):c.730C>T (p.Gln244Ter)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.3(F11):c.730C>T (p.Gln244Ter)
HGVS:
  • NC_000004.12:g.186276365C>T
  • NG_008051.1:g.15402C>T
  • NM_000128.3:c.730C>T
  • NP_000119.1:p.Gln244Ter
  • LRG_583t1:c.730C>T
  • LRG_583:g.15402C>T
  • LRG_583p1:p.Gln244Ter
  • NC_000004.11:g.187197519C>T
Protein change:
Q244*
Links:
dbSNP: rs747702749
NCBI 1000 Genomes Browser:
rs747702749
Molecular consequence:
  • NM_000128.3:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001422015Invitaecriteria provided, single submitter
Pathogenic
(Feb 21, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Recurrent mutations of factor XI gene in Japanese.

Okumura K, Kyotani M, Kawai R, Takagi A, Murate T, Yamamoto K, Takamatsu J, Matsushita T, Saito H, Kojima T.

Int J Hematol. 2006 Jun;83(5):462-3. No abstract available.

PubMed [citation]
PMID:
16787881

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Kim J, Song J, Lyu CJ, Kim YR, Oh SH, Choi YC, Yoo JH, Choi JR, Kim H, Lee KA.

Clin Genet. 2012 Aug;82(2):180-6. doi: 10.1111/j.1399-0004.2011.01732.x. Epub 2011 Jun 30.

PubMed [citation]
PMID:
21668437
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001422015.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Gln244*) in the F11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747702749, ExAC 0.01%). This variant has been observed in individual(s) with Factor XI deficiency (PMID: 16787881, 21668437). It is also known as Gln226X in the literature. ClinVar contains an entry for this variant (Variation ID: 189094). Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 8, 2021

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