NM_000128.3(F11):c.1136-7_1136-4del AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000796225.3

Allele description [Variation Report for NM_000128.3(F11):c.1136-7_1136-4del]

NM_000128.3(F11):c.1136-7_1136-4del

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.3(F11):c.1136-7_1136-4del
HGVS:
  • NC_000004.12:g.186284085_186284088del
  • NG_008051.1:g.23122_23125del
  • NM_000128.3:c.1136-7_1136-4del
  • LRG_583t1:c.1136-7_1136-4del
  • LRG_583:g.23122_23125del
  • NC_000004.11:g.187205239_187205242del
  • NM_000128.3:c.1136-7_1136-4delGTTG
Links:
dbSNP: rs1439195599
NCBI 1000 Genomes Browser:
rs1439195599
Molecular consequence:
  • NM_000128.3:c.1136-7_1136-4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000935730Invitaecriteria provided, single submitter
Pathogenic
(Sep 6, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]
PMID:
17576681
PMCID:
PMC1934990

Statistical features of human exons and their flanking regions.

Zhang MQ.

Hum Mol Genet. 1998 May;7(5):919-32.

PubMed [citation]
PMID:
9536098
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV000935730.3

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

Description

This sequence change falls in intron 10 of the F11 gene. It does not directly change the encoded amino acid sequence of the F11 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant, also known as IVS10-7_-4delGTTG, has been observed to segregate with Factor XI deficiency in a family and has been identified in the homozygous or compound heterozygous state in multiple individuals affected with Factor XI deficiency (PMID: 27067486, 15946525). ClinVar contains an entry for this variant (Variation ID: 555987). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this sequence change disrupts splicing (PMID: 15946525; 27067486). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 8, 2021

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