U.S. flag

An official website of the United States government

NM_005343.4(HRAS):c.202C>T (p.Arg68Trp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 14, 2022
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:
RCV003235615.1

Allele description [Variation Report for NM_005343.4(HRAS):c.202C>T (p.Arg68Trp)]

NM_005343.4(HRAS):c.202C>T (p.Arg68Trp)

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.202C>T (p.Arg68Trp)
HGVS:
  • NC_000011.10:g.533854G>A
  • NG_007666.1:g.6697C>T
  • NM_001130442.3:c.202C>T
  • NM_001318054.2:c.-118C>T
  • NM_005343.2:c.202C>T
  • NM_005343.4:c.202C>TMANE SELECT
  • NM_176795.5:c.202C>T
  • NP_001123914.1:p.Arg68Trp
  • NP_005334.1:p.Arg68Trp
  • NP_789765.1:p.Arg68Trp
  • LRG_506t1:c.202C>T
  • LRG_506:g.6697C>T
  • LRG_506p1:p.Arg68Trp
  • NC_000011.9:g.533854G>A
Protein change:
R68W
Links:
dbSNP: rs1370690781
NCBI 1000 Genomes Browser:
rs1370690781
Molecular consequence:
  • NM_001318054.2:c.-118C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005343.4:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_176795.5:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV003933626GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Dec 14, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV003933626.1

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

Description

Published functional studies demonstrate decreased ERK/ELK phosphorylation activity (Sana et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28002430, 24077912)

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

Last Updated: Sep 29, 2024