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NM_005633.3(SOS1):c.1270G>A (p.Glu424Lys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 4, 2013
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:
RCV000159159.1

Allele description

NM_005633.3(SOS1):c.1270G>A (p.Glu424Lys)

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_005633.3(SOS1):c.1270G>A (p.Glu424Lys)
Other names:
p.E424K:GAG>AAG
HGVS:
  • NC_000002.12:g.39023158C>T
  • NG_007530.1:g.102306G>A
  • NM_005633.3:c.1270G>A
  • NP_005624.2:p.Glu424Lys
  • LRG_754t1:c.1270G>A
  • LRG_754:g.102306G>A
  • LRG_754p1:p.Glu424Lys
  • NC_000002.11:g.39250299C>T
  • Q07889:p.Glu424Lys
Protein change:
E424K
Links:
UniProtKB: Q07889#VAR_066038; dbSNP: rs730881041
NCBI 1000 Genomes Browser:
rs730881041
Allele Frequency:
0.00001(T)
Molecular consequence:
  • NM_005633.3:c.1270G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000209104GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 4, 2013) 		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, SCV000209104.9

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

Description

p.Glu424Lys (GAG>AAG): c.1270 G>A in exon 10 of the SOS1 gene (NM_005633.3). The E424K missense change has been reported previously as a probable disease-causing mutation that was identified in one family (Lepri et al., 2011). The E424K amino acid substitution is non-conservative with a negatively charged residue (Glu) being replaced by a positively charged residue (Lys). The residue at which this substitution occurs is highly conserved in the protein. Many other mutations (M422V, W432R, E433K) have been reported in the surrounding residues in association with Noonan syndrome. The E424K missense change was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, the E424K missense change is interpreted as a disease-causing mutation. The variant is found in NOONAN panel(s).

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

Last Updated: Dec 11, 2017