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NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr) AND Noonan syndrome 4

Germline classification:
Uncertain significance (1 submission)
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:
RCV002467722.1

Allele description [Variation Report for NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)]

NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)

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.1820T>C (p.Ile607Thr)
HGVS:
  • NC_000002.12:g.39022608A>G
  • NG_007530.1:g.102856T>C
  • NM_001382394.1:c.1799T>C
  • NM_001382395.1:c.1820T>C
  • NM_005633.4:c.1820T>CMANE SELECT
  • NP_001369323.1:p.Ile600Thr
  • NP_001369324.1:p.Ile607Thr
  • NP_005624.2:p.Ile607Thr
  • NP_005624.2:p.Ile607Thr
  • LRG_754t1:c.1820T>C
  • LRG_754:g.102856T>C
  • LRG_754p1:p.Ile607Thr
  • NC_000002.11:g.39249749A>G
  • NM_005633.3:c.1820T>C
Protein change:
I600T
Links:
dbSNP: rs758699499
NCBI 1000 Genomes Browser:
rs758699499
Molecular consequence:
  • NM_001382394.1:c.1799T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382395.1:c.1820T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005633.4:c.1820T>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
SCV002763372Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Genome-Nilou Lab, SCV002763372.1

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

Last Updated: Sep 29, 2024