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NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 24, 2016
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:
RCV000623399.11

Allele description [Variation Report for NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)]

NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)

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.1642A>C (p.Ser548Arg)
Other names:
p.S548R:AGT>CGT; NM_005633.3(SOS1):c.1642A>C
HGVS:
  • NC_000002.12:g.39022786T>G
  • NG_007530.1:g.102678A>C
  • NM_001382394.1:c.1621A>C
  • NM_001382395.1:c.1642A>C
  • NM_005633.4:c.1642A>CMANE SELECT
  • NP_001369323.1:p.Ser541Arg
  • NP_001369324.1:p.Ser548Arg
  • NP_005624.2:p.Ser548Arg
  • NP_005624.2:p.Ser548Arg
  • NP_005624.2:p.Ser548Arg
  • LRG_754t1:c.1642A>C
  • LRG_754:g.102678A>C
  • LRG_754p1:p.Ser548Arg
  • NC_000002.11:g.39249927T>G
  • NM_005633.3:c.1642A>C
  • Q07889:p.Ser548Arg
  • c.1642A>C
Protein change:
S541R
Links:
UniProtKB: Q07889#VAR_030432; dbSNP: rs397517149
NCBI 1000 Genomes Browser:
rs397517149
Molecular consequence:
  • NM_001382394.1:c.1621A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382395.1:c.1642A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005633.4:c.1642A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741658Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Oct 24, 2016) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Scottish/Germangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless.

Gureasko J, Kuchment O, Makino DL, Sondermann H, Bar-Sagi D, Kuriyan J.

Proc Natl Acad Sci U S A. 2010 Feb 23;107(8):3430-5. doi: 10.1073/pnas.0913915107. Epub 2010 Feb 4.

PubMed [citation]
PMID:
20133692
PMCID:
PMC2816639

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, et al.

Nat Genet. 2007 Jan;39(1):75-9. Epub 2006 Dec 13. Erratum in: Nat Genet. 2007 Feb;39(2):276.

PubMed [citation]
PMID:
17143282
See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000741658.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Scottish/German1not providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024