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NM_000128.4(F11):c.1204C>T (p.Gln402Ter) AND Hereditary factor XI deficiency disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 6, 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:
RCV003479308.1

Allele description [Variation Report for NM_000128.4(F11):c.1204C>T (p.Gln402Ter)]

NM_000128.4(F11):c.1204C>T (p.Gln402Ter)

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.1204C>T (p.Gln402Ter)
HGVS:
  • NC_000004.12:g.186284160C>T
  • NG_008051.1:g.23197C>T
  • NM_000128.4:c.1204C>TMANE SELECT
  • NP_000119.1:p.Gln402Ter
  • LRG_583t1:c.1204C>T
  • LRG_583:g.23197C>T
  • NC_000004.11:g.187205314C>T
  • NM_000128.3:c.1204C>T
Protein change:
Q402*
Links:
dbSNP: rs1741002305
NCBI 1000 Genomes Browser:
rs1741002305
Molecular consequence:
  • NM_000128.4:c.1204C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary factor XI deficiency disease
Synonyms:
Plasma thromboplastin antecedent deficiency; PTA deficiency; Rosenthal syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012897; MeSH: D005173; MedGen: C0015523; Orphanet: 329; OMIM: 612416

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004223343Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Nov 6, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.

Shao Y, Cao Y, Lu Y, Dai J, Ding Q, Wang X, Xi X, Wang H.

Blood Cells Mol Dis. 2016 May;58:29-34. doi: 10.1016/j.bcmd.2016.01.004. Epub 2016 Jan 18.

PubMed [citation]
PMID:
27067486

Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China.

Yuan L, Chen W, Wang X, Zhang H.

Blood Coagul Fibrinolysis. 2021 Dec 1;32(8):539-543. doi: 10.1097/MBC.0000000000001061.

PubMed [citation]
PMID:
34776502

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004223343.1

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

Description

Variant summary: F11 c.1204C>T (p.Gln402X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251476 control chromosomes (gnomAD). c.1204C>T (also known as Q384*) has been reported in the literature in individuals affected with Hereditary factor XI deficiency disease (examples: Shao_2016 and Yuan_2021). These data indicate that the variant is likely to be associated with disease. 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: 27067486, 34776502). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Sep 29, 2024