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NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 6, 2018
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:
RCV000598510.4

Allele description [Variation Report for NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)]

NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)

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.11A>G (p.Tyr4Cys)
HGVS:
  • NC_000011.10:g.534312T>C
  • NG_007666.1:g.6239A>G
  • NM_001130442.3:c.11A>G
  • NM_001318054.2:c.-309A>G
  • NM_005343.4:c.11A>GMANE SELECT
  • NM_176795.5:c.11A>G
  • NP_001123914.1:p.Tyr4Cys
  • NP_005334.1:p.Tyr4Cys
  • NP_789765.1:p.Tyr4Cys
  • LRG_506t1:c.11A>G
  • LRG_506:g.6239A>G
  • LRG_506p1:p.Tyr4Cys
  • NC_000011.9:g.534312T>C
  • NM_005343.2:c.11A>G
Protein change:
Y4C
Links:
dbSNP: rs764622691
NCBI 1000 Genomes Browser:
rs764622691
Molecular consequence:
  • NM_001318054.2:c.-309A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.11A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005343.4:c.11A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_176795.5:c.11A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000709718Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Uncertain significance
(Mar 6, 2018)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000709718.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: GnomAd 11-534312-T-C: Europeans 7/126246;Change to Cys identified in microbat; Not in ClinVar, Pubmed, Google search or HGMD

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

Last Updated: Feb 25, 2025