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NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) AND Noonan syndrome 6

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:
RCV000709916.2

Allele description [Variation Report for NM_002524.5(NRAS):c.317C>T (p.Ser106Leu)]

NM_002524.5(NRAS):c.317C>T (p.Ser106Leu)

Gene:
NRAS:NRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu)
HGVS:
  • NC_000001.11:g.114709702G>A
  • NG_007572.1:g.12193C>T
  • NM_002524.5:c.317C>TMANE SELECT
  • NP_002515.1:p.Ser106Leu
  • LRG_92t1:c.317C>T
  • LRG_92:g.12193C>T
  • NC_000001.10:g.115252323G>A
  • NM_002524.3:c.317C>T
  • NM_002524.4:c.317C>T
Protein change:
S106L
Links:
dbSNP: rs797045795
NCBI 1000 Genomes Browser:
rs797045795
Molecular consequence:
  • NM_002524.5:c.317C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Noonan syndrome 6 (NS6)
Synonyms:
NRAS gene related Noonan syndrome
Identifiers:
MONDO: MONDO:0013186; MedGen: C2750732; Orphanet: 648; OMIM: 613224

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840258GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840258.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Apr 9, 2023