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NM_000128.4(F11):c.738G>A (p.Trp246Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 19, 2024
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:
RCV001972671.6

Allele description [Variation Report for NM_000128.4(F11):c.738G>A (p.Trp246Ter)]

NM_000128.4(F11):c.738G>A (p.Trp246Ter)

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.738G>A (p.Trp246Ter)
HGVS:
  • NC_000004.12:g.186276373G>A
  • NG_008051.1:g.15410G>A
  • NM_000128.4:c.738G>AMANE SELECT
  • NP_000119.1:p.Trp246Ter
  • LRG_583:g.15410G>A
  • NC_000004.11:g.187197527G>A
Protein change:
W246*
Links:
dbSNP: rs281875279
NCBI 1000 Genomes Browser:
rs281875279
Molecular consequence:
  • NM_000128.4:c.738G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002243007Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 19, 2024) 		germlineclinical testing

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

Help

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

A case of a severe factor XI deficiency in a Chinese woman with heavy menorrhagia.

Wang Y, Wang Q, Zhang Y, Ma P, Ding H.

Blood Coagul Fibrinolysis. 2019 Mar;30(2):75-79. doi: 10.1097/MBC.0000000000000795.

PubMed [citation]
PMID:
30720488
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002243007.3

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

Description

This sequence change creates a premature translational stop signal (p.Trp246*) in the F11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). This variant is present in population databases (rs281875279, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with autosomal recessive factor XI (FXI) deficiency (PMID: 30720488, 30950027). This variant is also known as Trp228Term. ClinVar contains an entry for this variant (Variation ID: 1457590). 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: Sep 29, 2024