NM_001354689.3(RAF1):c.293T>C (p.Val98Ala) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: May 10, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000619047.1

Allele description [Variation Report for NM_001354689.3(RAF1):c.293T>C (p.Val98Ala)]

NM_001354689.3(RAF1):c.293T>C (p.Val98Ala)

Gene:
RAF1:Raf-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.2
Genomic location:
Preferred name:
NM_001354689.3(RAF1):c.293T>C (p.Val98Ala)
HGVS:
  • NC_000003.12:g.12611977A>G
  • NG_007467.1:g.57203T>C
  • NM_001354689.3:c.293T>CMANE SELECT
  • NM_001354690.3:c.293T>C
  • NM_001354691.3:c.78-2642T>C
  • NM_001354692.3:c.78-2642T>C
  • NM_001354693.3:c.293T>C
  • NM_001354694.3:c.78-2642T>C
  • NM_001354695.3:c.78-2642T>C
  • NM_002880.3:c.293T>C
  • NM_002880.4:c.293T>C
  • NP_001341618.1:p.Val98Ala
  • NP_001341619.1:p.Val98Ala
  • NP_001341622.1:p.Val98Ala
  • NP_002871.1:p.Val98Ala
  • NP_002871.1:p.Val98Ala
  • LRG_413t1:c.293T>C
  • LRG_413t2:c.293T>C
  • LRG_413:g.57203T>C
  • LRG_413p1:p.Val98Ala
  • LRG_413p2:p.Val98Ala
  • NC_000003.11:g.12653476A>G
  • NR_148940.3:n.624T>C
  • NR_148941.3:n.624T>C
  • NR_148942.3:n.624T>C
Protein change:
V98A
Links:
dbSNP: rs763559779
NCBI 1000 Genomes Browser:
rs763559779
Molecular consequence:
  • NM_001354691.3:c.78-2642T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354692.3:c.78-2642T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354694.3:c.78-2642T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354695.3:c.78-2642T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354689.3:c.293T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.3:c.293T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.3:c.293T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.3:c.293T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.4:c.293T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.3:n.624T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.624T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.624T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000740153Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 10, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000740153.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.V98A variant (also known as c.293T>C), located in coding exon 2 of the RAF1 gene, results from a T to C substitution at nucleotide position 293. The valine at codon 98 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 24, 2021

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