NM_000128.4(F11):c.1465del (p.Thr489fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 9, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001381848.1

Allele description [Variation Report for NM_000128.4(F11):c.1465del (p.Thr489fs)]

NM_000128.4(F11):c.1465del (p.Thr489fs)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.1465del (p.Thr489fs)
HGVS:
  • NC_000004.12:g.186285798del
  • NG_008051.1:g.24835del
  • NM_000128.4:c.1465delMANE SELECT
  • NP_000119.1:p.Thr489fs
  • LRG_583:g.24835del
  • NC_000004.11:g.187206952del
  • NC_000004.11:g.187206952delA
Protein change:
T489fs
Links:
Molecular consequence:
  • NM_000128.4:c.1465del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001580403Invitaecriteria provided, single submitter
Pathogenic
(Nov 9, 2017)
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

A classification system for cross-reactive material-negative factor XI deficiency.

Kravtsov DV, Monahan PE, Gailani D.

Blood. 2005 Jun 15;105(12):4671-3. Epub 2005 Feb 22.

PubMed [citation]
PMID:
15728123
PMCID:
PMC1895004

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
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001580403.1

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

Description

This sequence change creates a premature translational stop signal (p.Thr489Glnfs*2) in the F11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with F11-related disease. Loss-of-function variants in F11 are known to be pathogenic (PMID: 15728123, 23929304, 25074526). 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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