NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) AND Noonan syndrome

delete

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 8, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000156997.8

Allele description

NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)

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.3032A>G (p.Asn1011Ser)

Other names:

p.N1011S:AAC>AGC; NM_005633.3(SOS1):c.3032A>G

HGVS:

NC_000002.12:g.38996971T>C
NG_007530.1:g.128493A>G
NM_001382394.1:c.3011A>G
NM_001382395.1:c.3032A>G
NM_005633.4:c.3032A>GMANE SELECT
NP_001369323.1:p.Asn1004Ser
NP_001369324.1:p.Asn1011Ser
NP_005624.2:p.Asn1011Ser
NP_005624.2:p.Asn1011Ser
LRG_754t1:c.3032A>G
LRG_754:g.128493A>G
LRG_754p1:p.Asn1011Ser
NC_000002.11:g.39224112T>C
NM_005633.3:c.3032A>G
Q07889:p.Asn1011Ser
c.3032A>G

Protein change:

N1004S

Links:

UniProtKB: Q07889#VAR_066056; dbSNP: rs8192671

NCBI 1000 Genomes Browser:

rs8192671

Molecular consequence:

NM_001382394.1:c.3011A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382395.1:c.3032A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005633.4:c.3032A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000206721	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	no assertion criteria provided	Uncertain significance (Jun 8, 2011)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000206721

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

no assertion criteria provided

Uncertain significance
(Jun 8, 2011)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic	germline	yes	1	not provided	not provided	1	unknown	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000206721.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic	1	not provided	unknown	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 26, 2024

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