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NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 2020
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:
RCV002372038.2

Allele description [Variation Report for NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly)]

NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly)

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.1271A>G (p.Glu424Gly)
Other names:
p.E424G:GAG>GGG
HGVS:
  • NC_000002.12:g.39023157T>C
  • NG_007530.1:g.102307A>G
  • NM_001382394.1:c.1250A>G
  • NM_001382395.1:c.1271A>G
  • NM_005633.4:c.1271A>GMANE SELECT
  • NP_001369323.1:p.Glu417Gly
  • NP_001369324.1:p.Glu424Gly
  • NP_005624.2:p.Glu424Gly
  • NP_005624.2:p.Glu424Gly
  • LRG_754t1:c.1271A>G
  • LRG_754:g.102307A>G
  • LRG_754p1:p.Glu424Gly
  • NC_000002.11:g.39250298T>C
  • NM_005633.3:c.1271A>G
Protein change:
E417G
Links:
dbSNP: rs730881042
NCBI 1000 Genomes Browser:
rs730881042
Molecular consequence:
  • NM_001382394.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382395.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005633.4:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002686331Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 4, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).

Mazzanti L, Tamburrino F, Scarano E, Perri A, Vestrucci B, Guidetti M, Rossi C, Tartaglia M.

Am J Med Genet A. 2013 Nov;161A(11):2756-61. doi: 10.1002/ajmg.a.36255. Epub 2013 Oct 3.

PubMed [citation]
PMID:
24124081

Details of each submission

From Ambry Genetics, SCV002686331.2

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

Description

The p.E424G variant (also known as c.1271A>G), located in coding exon 10 of the SOS1 gene, results from an A to G substitution at nucleotide position 1271. The glutamic acid at codon 424 is replaced by glycine, an amino acid with similar properties. This variant has been reported to co-occur with SHOC2 p.S2G (c.4A>G) in one individual with Noonan-like syndrome with loose anagen hair (Mazzanti L et al. Am. J. Med. Genet. A, 2013 Nov;161A:2756-61). 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024