NM_033360.4(KRAS):c.347A>G (p.Asn116Ser) AND Noonan syndrome 1

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000144422.1

Allele description [Variation Report for NM_033360.4(KRAS):c.347A>G (p.Asn116Ser)]

NM_033360.4(KRAS):c.347A>G (p.Asn116Ser)

Gene:

KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_033360.4(KRAS):c.347A>G (p.Asn116Ser)

HGVS:

NC_000012.12:g.25225717T>C
NG_007524.1:g.30204A>G
NG_007524.2:g.30287A>G
NM_001369786.1:c.347A>G
NM_001369787.1:c.347A>G
NM_004985.5:c.347A>GMANE SELECT
NM_033360.4:c.347A>G
NP_001356715.1:p.Asn116Ser
NP_001356716.1:p.Asn116Ser
NP_004976.2:p.Asn116Ser
NP_203524.1:p.Asn116Ser
LRG_344t1:c.347A>G
LRG_344t2:c.347A>G
LRG_344:g.30287A>G
LRG_344p1:p.Asn116Ser
LRG_344p2:p.Asn116Ser
NC_000012.11:g.25378651T>C
NM_004985.3:c.347A>G

Protein change:

N116S

Links:

dbSNP: rs202247812

NCBI 1000 Genomes Browser:

rs202247812

Molecular consequence:

NM_001369786.1:c.347A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369787.1:c.347A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004985.5:c.347A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033360.4:c.347A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Noonan syndrome 1 (NS1)
Synonyms:: Turner Syndrome, Male; Turner phenotype with normal karyotype; Female pseudo-Turner syndrome
Identifiers:: MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189477	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000189477

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

not provided

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

Description

Identified in a single female Japanese proband diagnosed at age 6. Experimental analyses suggest a gain of function.: SCV000189477

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Characterization of a novel KRAS mutation identified in Noonan syndrome.

Razzaque MA, Komoike Y, Nishizawa T, Inai K, Furutani M, Higashinakagawa T, Matsuoka R.

Am J Med Genet A. 2012 Mar;158A(3):524-32. doi: 10.1002/ajmg.a.34419. Epub 2012 Feb 2.

PubMed [citation]

PMID:: 22302539

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000189477.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

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

Last Updated: Apr 23, 2022

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