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NM_005633.4(SOS1):c.1434A>T (p.Pro478=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 12, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000606689.1

Allele description [Variation Report for NM_005633.4(SOS1):c.1434A>T (p.Pro478=)]

NM_005633.4(SOS1):c.1434A>T (p.Pro478=)

Gene:
SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.1
Genomic location:
Preferred name:
NM_005633.4(SOS1):c.1434A>T (p.Pro478=)
HGVS:
  • NC_000002.12:g.39022994T>A
  • NG_007530.1:g.102470A>T
  • NM_001382394.1:c.1413A>T
  • NM_001382395.1:c.1434A>T
  • NM_005633.4:c.1434A>TMANE SELECT
  • NP_001369323.1:p.Pro471=
  • NP_001369324.1:p.Pro478=
  • NP_005624.2:p.Pro478=
  • NP_005624.2:p.Pro478=
  • LRG_754t1:c.1434A>T
  • LRG_754:g.102470A>T
  • LRG_754p1:p.Pro478=
  • NC_000002.11:g.39250135T>A
  • NM_005633.3:c.1434A>T
Links:
dbSNP: rs368495902
NCBI 1000 Genomes Browser:
rs368495902
Molecular consequence:
  • NM_001382394.1:c.1413A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001382395.1:c.1434A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005633.4:c.1434A>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000732362GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Apr 12, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000732362.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Apr 23, 2022