NM_006939.4(SOS2):c.2317G>C (p.Asp773His) AND Noonan syndrome

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001261126.1

Allele description [Variation Report for NM_006939.4(SOS2):c.2317G>C (p.Asp773His)]

NM_006939.4(SOS2):c.2317G>C (p.Asp773His)

Gene:
SOS2:SOS Ras/Rho guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q21.3
Genomic location:
Preferred name:
NM_006939.4(SOS2):c.2317G>C (p.Asp773His)
HGVS:
  • NC_000014.9:g.50150075C>G
  • NG_051073.1:g.86619G>C
  • NM_006939.4:c.2317G>CMANE SELECT
  • NP_008870.2:p.Asp773His
  • NC_000014.8:g.50616793C>G
  • NM_006939.2:c.2317G>C
  • NM_006939.3:c.2317G>C
Protein change:
D773H
Links:
dbSNP: rs114711076
NCBI 1000 Genomes Browser:
rs114711076
Molecular consequence:
  • NM_006939.4:c.2317G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Noonan syndrome (NS)
Synonyms:
Noonan's syndrome; Pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0018997; MeSH: D009634; MedGen: C0028326; OMIM: PS163950

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438533Service de Génétique Moléculaire,Hôpital Robert Debréno assertion criteria providedLikely benignmaternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalnonot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire,Hôpital Robert Debré, SCV001438533.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalnonot providednot providednot providednot providednot provided1not provided

Last Updated: Oct 7, 2021

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