NM_000128.4(F11):c.1017C>A (p.Cys339Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001390454.1

Allele description [Variation Report for NM_000128.4(F11):c.1017C>A (p.Cys339Ter)]

NM_000128.4(F11):c.1017C>A (p.Cys339Ter)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.1017C>A (p.Cys339Ter)
HGVS:
  • NC_000004.12:g.186280374C>A
  • NG_008051.1:g.19411C>A
  • NM_000128.4:c.1017C>AMANE SELECT
  • NP_000119.1:p.Cys339Ter
  • LRG_583:g.19411C>A
  • NC_000004.11:g.187201528C>A
Protein change:
C339*
Molecular consequence:
  • NM_000128.4:c.1017C>A - 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
SCV001592194Invitaecriteria provided, single submitter
Pathogenic
(Feb 18, 2020)
germlineclinical testing

PubMed (2)
[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

Congenital factor XI deficiency: an update.

Duga S, Salomon O.

Semin Thromb Hemost. 2013 Sep;39(6):621-31. doi: 10.1055/s-0033-1353420. Epub 2013 Aug 8. Review.

PubMed [citation]
PMID:
23929304

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001592194.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Cys339*) in the F11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs745901569, ExAC 0.02%). This variant has not been reported in the literature in individuals with F11-related conditions. 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: May 14, 2021

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