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NC_000004.11:g.(?_187207549)_(187209969_?)del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 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:
RCV004580806.2

Allele description [Variation Report for NC_000004.11:g.(?_187207549)_(187209969_?)del]

NC_000004.11:g.(?_187207549)_(187209969_?)del

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q35.2
Genomic location:
Chr4: 187207549 - 187209969 (on Assembly GRCh37)
Preferred name:
NC_000004.11:g.(?_187207549)_(187209969_?)del
HGVS:
NC_000004.11:g.(?_187207549)_(187209969_?)del

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
SCV005064830Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 6, 2023) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.

Quélin F, Trossaërt M, Sigaud M, Mazancourt PD, Fressinaud E.

J Thromb Haemost. 2004 Jan;2(1):71-6.

PubMed [citation]
PMID:
14717969

Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency.

Germanos-Haddad M, de Moerloose P, Boehlen F, Peyvandi F, Neerman-Arbez M.

Haematologica. 2005 Mar;90(3):418-9.

PubMed [citation]
PMID:
15749683
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005064830.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 13-15 of the F11 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with F11-related conditions. This variant disrupts a region of the F11 protein in which other variant(s) (p.Thr593Met) have been determined to be pathogenic (PMID: 14717969, 15749683, 17549289, 27067486). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024