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NM_000128.4(F11):c.408C>A (p.Cys136Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 7, 2022
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:
RCV002516531.3

Allele description [Variation Report for NM_000128.4(F11):c.408C>A (p.Cys136Ter)]

NM_000128.4(F11):c.408C>A (p.Cys136Ter)

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.408C>A (p.Cys136Ter)
HGVS:
  • NC_000004.12:g.186274198C>A
  • NG_008051.1:g.13235C>A
  • NM_000128.4:c.408C>AMANE SELECT
  • NM_001354804.2:c.408C>A
  • NP_000119.1:p.Cys136Ter
  • NP_000119.1:p.Cys136Ter
  • NP_001341733.1:p.Cys136Ter
  • LRG_583t1:c.408C>A
  • LRG_583:g.13235C>A
  • LRG_583p1:p.Cys136Ter
  • NC_000004.11:g.187195352C>A
  • NM_000128.3:c.408C>A
Protein change:
C136*
Links:
dbSNP: rs143648758
NCBI 1000 Genomes Browser:
rs143648758
Molecular consequence:
  • NM_000128.4:c.408C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354804.2:c.408C>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
SCV003525622Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 7, 2022) 		germlineclinical testing

PubMed (3)
[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

Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.

Zadra G, Asselta R, Malcovati M, Santagostino E, Peyvandi F, Mannucci PM, Tenchini ML, Duga S.

Haematologica. 2004 Nov;89(11):1332-40.

PubMed [citation]
PMID:
15531455
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003525622.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Cys136*) 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 (rs143648758, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 188914). This variant is also known as Cys118stop. This premature translational stop signal has been observed in individual(s) with autosomal recessive factor XI deficiency (PMID: 15531455).

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

Last Updated: Sep 29, 2024