NM_012250.6(RRAS2):c.440G>A (p.Arg147Gln) AND Noonan syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 7, 2024
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:
RCV004786969.1

Allele description [Variation Report for NM_012250.6(RRAS2):c.440G>A (p.Arg147Gln)]

NM_012250.6(RRAS2):c.440G>A (p.Arg147Gln)

Gene:
RRAS2:RAS related 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.2
Genomic location:
Preferred name:
NM_012250.6(RRAS2):c.440G>A (p.Arg147Gln)
HGVS:
  • NC_000011.10:g.14281689C>T
  • NG_017058.1:g.87818G>A
  • NM_001102669.2:c.209G>A
  • NM_001177314.2:c.335G>A
  • NM_001177315.1:c.209G>A
  • NM_012250.6:c.440G>AMANE SELECT
  • NP_001096139.1:p.Arg70Gln
  • NP_001170785.1:p.Arg112Gln
  • NP_001170786.1:p.Arg70Gln
  • NP_036382.2:p.Arg147Gln
  • NC_000011.9:g.14303235C>T
Protein change:
R112Q
Molecular consequence:
  • NM_001102669.2:c.209G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177314.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177315.1:c.209G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012250.6:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005402305St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(May 7, 2024) 		germlineclinical testing

Citation Link

Help

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, SCV005402305.1

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

Description

The RRAS2 c.440G>A (p.Arg147Gln) missense change has a maximum subpopulation frequency of 0.022% 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 22, 2025