NM_000131.4(F7):c.805+3_805+6del AND Factor VII deficiency

Clinical significance:Likely pathogenic (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000779129.1

Allele description [Variation Report for NM_000131.4(F7):c.805+3_805+6del]

NM_000131.4(F7):c.805+3_805+6del

Gene:
F7:coagulation factor VII [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_000131.4(F7):c.805+3_805+6del
HGVS:
  • NC_000013.11:g.113117595_113117598GGGT[1]
  • NG_009262.1:g.16805_16808GGGT[1]
  • NM_000131.4:c.805+3_805+6del
  • NM_001267554.1:c.553+3_553+6del
  • NM_019616.3:c.739+3_739+6del
  • LRG_554t1:c.805+3_805+6del
  • LRG_554t2:c.739+3_739+6del
  • LRG_554:g.16805_16808GGGT[1]
  • NC_000013.10:g.113771909_113771912GGGT[1]
  • NM_000131.4:c.805+3_805+6delGGGT
Links:
dbSNP: rs754785708
NCBI 1000 Genomes Browser:
rs754785708
Molecular consequence:
  • NM_000131.4:c.805+3_805+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001267554.1:c.553+3_553+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_019616.3:c.739+3_739+6del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Factor VII deficiency
Synonyms:
Factor 7 deficiency; F7 deficiency; Hypoproconvertinemia
Identifiers:
MedGen: C0015503; Orphanet: 327; OMIM: 227500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000915623Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely pathogenic
(Apr 28, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Heterozygous congenital Factor VII deficiency with the 9729del4 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male.

Cramer TJ, Anderson K, Navaz K, Brown JM, Mosnier LO, von Drygalski A.

Blood Cells Mol Dis. 2016 Mar;57:8-12. doi: 10.1016/j.bcmd.2015.11.004. Epub 2015 Nov 10.

PubMed [citation]
PMID:
26852649
PMCID:
PMC4874642

Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene.

Pinotti M, Toso R, Redaelli R, Berrettini M, Marchetti G, Bernardi F.

Blood. 1998 Sep 1;92(5):1646-51.

PubMed [citation]
PMID:
9716592

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000915623.1

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

Description

The F7 c.805+3_805+6delGGGT variant has been reported in at least two studies in which it is found in a heterozygous state in two individuals with factor VII deficiency, including one who was mildly affected and one who was asymptomatic (Pinotti et al. 1998; Cramer et al. 2016). Characterization of FVII activity levels revealed activities of 44% and 61% of wild type, respectively, for the two individuals, consistent with mild factor VII deficiency. The granddaughter of the asymptomatic individual, who had a coagulation phenotype similar to that of her grandfather and a FVII activity level of 47%, was also found to carry this variant, though zygosity is not stated. The c805+3_805+6delGGGT variant was absent from 100 controls and is reported at a frequency of 0.00035 in the Latino population of the Exome Aggregation Consortium. Pinotti et al. (1998) demonstrated abnormal splicing by RT-PCR of mRNA derived from patient cells as well as transfected BHK cells, indicating the in-frame insertion of 11 codons in the mutant mRNA. Based on the available evidence, the c.805+3_805+6delGGGT variant is classified as a variant of unknown significance but suspicious for pathogenicity for factor VII deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Oct 6, 2021

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