NM_019616.4(F7):c.995C>T (p.Ala332Val) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 15, 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:
RCV001091742.3

Allele description [Variation Report for NM_019616.4(F7):c.995C>T (p.Ala332Val)]

NM_019616.4(F7):c.995C>T (p.Ala332Val)

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.995C>T (p.Ala332Val)
Other names:
F7, ALA294VAL; A294V
HGVS:
  • NC_000013.11:g.113118668C>T
  • NG_009258.1:g.870C>T
  • NG_009262.1:g.17878C>T
  • NM_000131.4:c.1061C>T
  • NM_001267554.1:c.809C>T
  • NM_019616.4:c.995C>TMANE SELECT
  • NP_000122.1:p.Ala354Val
  • NP_001254483.1:p.Ala270Val
  • NP_062562.1:p.Ala332Val
  • LRG_554t1:c.1061C>T
  • LRG_548:g.870C>T
  • LRG_554:g.17878C>T
  • LRG_554p1:p.Ala354Val
  • NC_000013.10:g.113772982C>T
  • NR_051961.2:n.1079C>T
  • P08709:p.Ala354Val
Protein change:
A270V; ALA294VAL
Links:
UniProtKB: P08709#VAR_006511; OMIM: 613878.0010; dbSNP: rs36209567
NCBI 1000 Genomes Browser:
rs36209567
Molecular consequence:
  • NM_000131.4:c.1061C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267554.1:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019616.4:c.995C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_051961.2:n.1079C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001247947CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Oct 1, 2019)
germlineclinical testing

Citation Link,

SCV001586999Invitaecriteria provided, single submitter
Pathogenic
(Apr 15, 2020)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro).

Bernardi F, Castaman G, Redaelli R, Pinotti M, Lunghi B, Rodeghiero F, Marchetti G.

Hum Mol Genet. 1994 Jul;3(7):1175-7. No abstract available.

PubMed [citation]
PMID:
7981691

Molecular analysis of Polish patients with factor VII deficiency.

Arbini AA, Bodkin D, Lopaciuk S, Bauer KA.

Blood. 1994 Oct 1;84(7):2214-20.

PubMed [citation]
PMID:
7919338
See all PubMed Citations (5)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247947.6

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

From Invitae, SCV001586999.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change replaces alanine with valine at codon 354 of the F7 protein (p.Ala354Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs36209567, ExAC 0.1%). This variant has been reported as homozygous or compound heterozygous in many individuals and families affected with factor VII deficiency (PMID: 7981691, 7919338, 10862079, 15735798). This variant is also known as Ala294Val in the literature. ClinVar contains an entry for this variant (Variation ID: 12076). Individuals who carried this variant in addition to a second variant had low factor VII activity in blood samples, suggesting that this variant impairs protein function (PMID: 7981691, 7919338, 10862079, 15735798). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 6, 2021

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