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NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 5, 2017
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:
RCV000505776.1

Allele description [Variation Report for NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)]

NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)

Genes:
HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)
HGVS:
  • NC_000011.10:g.532700C>T
  • NG_007666.1:g.7851G>A
  • NM_001130442.3:c.506G>A
  • NM_001318054.2:c.269G>A
  • NM_005343.4:c.506G>AMANE SELECT
  • NM_176795.5:c.*75G>A
  • NP_001123914.1:p.Arg169Gln
  • NP_001304983.1:p.Arg90Gln
  • NP_005334.1:p.Arg169Gln
  • LRG_506t1:c.506G>A
  • LRG_506:g.7851G>A
  • LRG_506p1:p.Arg169Gln
  • NC_000011.9:g.532700C>T
  • NM_005343.2:c.506G>A
  • NM_005343.3:c.506G>A
Protein change:
R169Q
Links:
dbSNP: rs142218590
NCBI 1000 Genomes Browser:
rs142218590
Molecular consequence:
  • NM_176795.5:c.*75G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001130442.3:c.506G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318054.2:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005343.4:c.506G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207863GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 5, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000207863.6

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

Description

The R169Q variant has not been published in association with the Noonan syndrome spectrum to our knowledge; the variant has been observed as a germline variant in an individual with lung cancer but no reported other phenotype (Marks et al., 2007). It was observed to co-occur with the M269T pathogenic variant in the SOS1 gene in a patient at GeneDx. The variant is observed in 1/10172 (0.01%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). R169Q is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species; however, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Oct 8, 2024