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NM_000128.4(F11):c.452A>G (p.Tyr151Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 2023
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:
RCV003323384.2

Allele description [Variation Report for NM_000128.4(F11):c.452A>G (p.Tyr151Cys)]

NM_000128.4(F11):c.452A>G (p.Tyr151Cys)

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.452A>G (p.Tyr151Cys)
HGVS:
  • NC_000004.12:g.186274242A>G
  • NG_008051.1:g.13279A>G
  • NM_000128.4:c.452A>GMANE SELECT
  • NM_001354804.2:c.452A>G
  • NP_000119.1:p.Tyr151Cys
  • NP_000119.1:p.Tyr151Cys
  • NP_001341733.1:p.Tyr151Cys
  • LRG_583t1:c.452A>G
  • LRG_583:g.13279A>G
  • LRG_583p1:p.Tyr151Cys
  • NC_000004.11:g.187195396A>G
  • NM_000128.3:c.452A>G
  • P03951:p.Tyr151Cys
Protein change:
Y151C
Links:
UniProtKB: P03951#VAR_054897; UniProtKB/Swiss-Prot: VAR_054897; dbSNP: rs281875273
NCBI 1000 Genomes Browser:
rs281875273
Molecular consequence:
  • NM_000128.4:c.452A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354804.2:c.452A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004030014Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 27, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.

Hill M, McLeod F, Franks H, Gordon B, Dolan G.

Br J Haematol. 2005 Jun;129(6):825-9.

PubMed [citation]
PMID:
15953011

Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

Mitchell M, Mountford R, Butler R, Alhaq A, Dai L, Savidge G, Bolton-Maggs PH.

Hum Mutat. 2006 Aug;27(8):829.

PubMed [citation]
PMID:
16835901

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004030014.1

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

Description

Variant summary: F11 c.452A>G (p.Tyr151Cys) results in a non-conservative amino acid change located in the Apple domain (IPR000177) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251302 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.452A>G has been reported in the literature in at-least one compound heterozygous and several heterozygous individuals affected with Hereditary factor XI deficiency disease (example: Hill_F2005, Mitchell_2006). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 15953011, 16835901). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 3, 2023