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NM_000128.4(F11):c.961_962del (p.Cys321fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 19, 2021
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:
RCV001850389.4

Allele description [Variation Report for NM_000128.4(F11):c.961_962del (p.Cys321fs)]

NM_000128.4(F11):c.961_962del (p.Cys321fs)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.961_962del (p.Cys321fs)
HGVS:
  • NC_000004.12:g.186280316TG[1]
  • NG_008051.1:g.19353TG[1]
  • NM_000128.4:c.961_962delMANE SELECT
  • NP_000119.1:p.Cys321fs
  • LRG_583:g.19353TG[1]
  • NC_000004.11:g.187201470TG[1]
  • NC_000004.11:g.187201470_187201471del
  • NM_000128.3:c.961_962delTG
Protein change:
C321fs
Links:
dbSNP: rs786204449
NCBI 1000 Genomes Browser:
rs786204449
Molecular consequence:
  • NM_000128.4:c.961_962del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002240333Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 19, 2021) 		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

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

Molecular investigation of 41 patients affected by coagulation factor XI deficiency.

Rimoldi V, Paraboschi EM, Menegatti M, Peyvandi F, Salomon O, Duga S, Asselta R.

Haemophilia. 2018 Mar;24(2):e50-e55. doi: 10.1111/hae.13378. Epub 2017 Nov 27. No abstract available.

PubMed [citation]
PMID:
29178608
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002240333.3

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

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 188757). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive factor XI deficiency (PMID: 16835901, 29178608). This variant is present in population databases (rs753106039, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Cys321Hisfs*37) 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).

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

Last Updated: Sep 29, 2024