NM_000131.4(F7):c.805+3_805+6del AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Mar 29, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001091741.3

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]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001247946CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Jan 1, 2019)
germlineclinical testing

Citation Link,

SCV001713652Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Likely pathogenic
(Mar 29, 2021)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

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

Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.

Millar DS, Kemball-Cook G, McVey JH, Tuddenham EG, Mumford AD, Attock GB, Reverter JC, Lanir N, Parapia LA, Reynaud J, Meili E, von Felton A, Martinowitz U, Prangnell DR, Krawczak M, Cooper DN.

Hum Genet. 2000 Oct;107(4):327-42.

PubMed [citation]
PMID:
11129332
See all PubMed Citations (6)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247946.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713652.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

PP3 + PS3 + PM1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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