NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 30, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001568261.3

Allele description [Variation Report for NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly)]

NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly)

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.913A>G (p.Ser305Gly)
HGVS:
  • NC_000003.12:g.12600397T>C
  • NG_007467.1:g.68783A>G
  • NM_001354689.3:c.913A>GMANE SELECT
  • NM_001354690.2:c.853A>G
  • NM_001354691.2:c.610A>G
  • NM_001354692.2:c.610A>G
  • NM_001354693.2:c.754A>G
  • NM_001354694.2:c.670A>G
  • NM_001354695.2:c.511A>G
  • NM_002880.3:c.853A>G
  • NP_001341618.1:p.Ser305Gly
  • NP_001341619.1:p.Ser285Gly
  • NP_001341620.1:p.Ser204Gly
  • NP_001341621.1:p.Ser204Gly
  • NP_001341622.1:p.Ser252Gly
  • NP_001341623.1:p.Ser224Gly
  • NP_001341624.1:p.Ser171Gly
  • NP_002871.1:p.Ser285Gly
  • LRG_413t1:c.853A>G
  • LRG_413t2:c.913A>G
  • LRG_413:g.68783A>G
  • LRG_413p1:p.Ser285Gly
  • LRG_413p2:p.Ser305Gly
  • NC_000003.11:g.12641896T>C
  • NR_148940.2:n.1184A>G
  • NR_148941.2:n.1184A>G
  • NR_148942.2:n.1184A>G
Protein change:
S171G
Links:
dbSNP: rs150054973
NCBI 1000 Genomes Browser:
rs150054973
Molecular consequence:
  • NM_001354689.3:c.913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.2:c.853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.2:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.2:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.2:c.754A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.2:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.2:c.511A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.3:c.853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.2:n.1184A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.2:n.1184A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.2:n.1184A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001792103GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 30, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001792103.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 263589; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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

Last Updated: Oct 8, 2021

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