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NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) AND Salivary gland neoplasm

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001844808.1

Allele description [Variation Report for NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)]

NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)

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.182A>G (p.Gln61Arg)
Other names:
p.Q61R:CAG>CGG
HGVS:
  • NC_000011.10:g.533874T>C
  • NG_007666.1:g.6677A>G
  • NM_001130442.3:c.182A>G
  • NM_001318054.2:c.-138A>G
  • NM_005343.4:c.182A>GMANE SELECT
  • NM_176795.5:c.182A>G
  • NP_001123914.1:p.Gln61Arg
  • NP_005334.1:p.Gln61Arg
  • NP_789765.1:p.Gln61Arg
  • NP_789765.1:p.Gln61Arg
  • LRG_506t1:c.182A>G
  • LRG_506:g.6677A>G
  • LRG_506p1:p.Gln61Arg
  • NC_000011.9:g.533874T>C
  • NM_005343.2:c.182A>G
  • NM_005343.3:c.182A>G
  • NM_176795.4:c.182A>G
Protein change:
Q61R; GLN61ARG
Links:
OMIM: 190020.0019; dbSNP: rs121913233
NCBI 1000 Genomes Browser:
rs121913233
Molecular consequence:
  • NM_001318054.2:c.-138A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005343.4:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_176795.5:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Salivary gland neoplasm
Synonyms:
Tumor of salivary gland
Identifiers:
MONDO: MONDO:0021357; MedGen: C0036095; Human Phenotype Ontology: HP:0100684

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002104179Department of Medical Oncology, City of Hope
no assertion criteria provided
Pathogenicsomaticclinical testing

Summary from all submissions

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

Details of each submission

From Department of Medical Oncology, City of Hope, SCV002104179.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024