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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 2, 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:
RCV000796225.6

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

NM_000128.4(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_000128.4(F11):c.1136-7_1136-4del
HGVS:
  • NC_000004.12:g.186284085_186284088del
  • NG_008051.1:g.23122_23125del
  • NM_000128.4:c.1136-7_1136-4delMANE SELECT
  • LRG_583t1:c.1136-7_1136-4del
  • LRG_583:g.23122_23125del
  • NC_000004.11:g.187205239_187205242del
  • NM_000128.3:c.1136-7_1136-4del
  • NM_000128.3:c.1136-7_1136-4delGTTG
Links:
dbSNP: rs1439195599
NCBI 1000 Genomes Browser:
rs1439195599
Molecular consequence:
  • NM_000128.4:c.1136-7_1136-4del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000935730Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 2, 2023) 		germlineclinical testing

PubMed (5)
[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

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, SCV000935730.6

#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. It affects a nucleotide within the consensus splice site. For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 15946525, 27067486). ClinVar contains an entry for this variant (Variation ID: 555987). This variant has been observed in individuals with Factor XI deficiency (PMID: 15946525, 27067486). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.006%).

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

Last Updated: Mar 30, 2024