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

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 26, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002054544.10

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]

Condition(s)

Name:
Noonan syndrome 4 (NS4)
Synonyms:
NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS; NL/MGCLS
Identifiers:
MONDO: MONDO:0012547; MedGen: C1853120; Orphanet: 648; OMIM: 610733

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002320777Provincial Medical Genetics Program of British Columbia, University of British Columbia
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2022) 		de novoclinical testing

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

SCV005049882Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 26, 2024) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Provincial Medical Genetics Program of British Columbia, University of British Columbia, SCV002320777.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV005049882.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 25, 2024