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NM_005633.4(SOS1):c.1698G>C (p.Gln566His) AND Noonan syndrome 4

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 24, 2023
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:
RCV003154580.1

Allele description [Variation Report for NM_005633.4(SOS1):c.1698G>C (p.Gln566His)]

NM_005633.4(SOS1):c.1698G>C (p.Gln566His)

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.1698G>C (p.Gln566His)
HGVS:
  • NC_000002.12:g.39022730C>G
  • NG_007530.1:g.102734G>C
  • NM_001382394.1:c.1677G>C
  • NM_001382395.1:c.1698G>C
  • NM_005633.4:c.1698G>CMANE SELECT
  • NP_001369323.1:p.Gln559His
  • NP_001369324.1:p.Gln566His
  • NP_005624.2:p.Gln566His
  • NP_005624.2:p.Gln566His
  • LRG_754t1:c.1698G>C
  • LRG_754:g.102734G>C
  • LRG_754p1:p.Gln566His
  • NC_000002.11:g.39249871C>G
  • NM_005633.3:c.1698G>C
Protein change:
Q559H
Molecular consequence:
  • NM_001382394.1:c.1677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382395.1:c.1698G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005633.4:c.1698G>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003843013St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Jan 24, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV003843013.1

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

Description

The SOS1 c.1698G>C (p.Gln566His) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with Noonan syndrome. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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

Last Updated: Mar 26, 2023