NM_019616.4(F7):c.844G>A (p.Ala282Thr) AND Factor VII deficiency

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001111142.1

Allele description [Variation Report for NM_019616.4(F7):c.844G>A (p.Ala282Thr)]

NM_019616.4(F7):c.844G>A (p.Ala282Thr)

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.844G>A (p.Ala282Thr)
HGVS:
  • NC_000013.11:g.113118517G>A
  • NG_009258.1:g.719G>A
  • NG_009262.1:g.17727G>A
  • NM_000131.4:c.910G>A
  • NM_001267554.1:c.658G>A
  • NM_019616.4:c.844G>AMANE SELECT
  • NP_000122.1:p.Ala304Thr
  • NP_001254483.1:p.Ala220Thr
  • NP_062562.1:p.Ala282Thr
  • LRG_554t1:c.910G>A
  • LRG_548:g.719G>A
  • LRG_554:g.17727G>A
  • LRG_554p1:p.Ala304Thr
  • NC_000013.10:g.113772831G>A
  • NR_051961.2:n.928G>A
Protein change:
A220T
Links:
Molecular consequence:
  • NM_000131.4:c.910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267554.1:c.658G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019616.4:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_051961.2:n.928G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001268658Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001268658.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Apr 12, 2021

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