NM_019616.4(F7):c.364+1G>A AND Factor VII deficiency

Clinical significance:Likely pathogenic (Last evaluated: May 6, 2020)

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:
RCV000852127.2

Allele description [Variation Report for NM_019616.4(F7):c.364+1G>A]

NM_019616.4(F7):c.364+1G>A

Gene:
F7:coagulation factor VII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_019616.4(F7):c.364+1G>A
HGVS:
  • NC_000013.11:g.113113961G>A
  • NG_009262.1:g.13171G>A
  • NM_000131.4:c.430+1G>A
  • NM_001267554.2:c.178+1G>A
  • NM_019616.4:c.364+1G>AMANE SELECT
  • LRG_554t1:c.430+1G>A
  • LRG_554:g.13171G>A
  • NC_000013.10:g.113768275G>A
Links:
dbSNP: rs1056071555
NCBI 1000 Genomes Browser:
rs1056071555
Molecular consequence:
  • NM_000131.4:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001267554.2:c.178+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_019616.4:c.364+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Factor VII deficiency
Synonyms:
Factor 7 deficiency; F7 deficiency; Hypoproconvertinemia
Identifiers:
MONDO: MONDO:0009211; MedGen: C0015503; Orphanet: 327; OMIM: 227500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000899735NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomicscriteria provided, single submitter
Likely pathogenic
(Feb 1, 2019)
unknownresearch

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

SCV001522607Baylor Geneticscriteria provided, single submitter
Likely pathogenic
(May 6, 2020)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
Europeanunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, et al.

Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.

PubMed [citation]
PMID:
31064749
PMCID:
PMC6993014

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics, SCV000899735.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

From Baylor Genetics, SCV001522607.1

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

Description

This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Oct 25, 2021

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