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NM_005343.4(HRAS):c.282C>T (p.His94=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 14, 2011
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:
RCV000038456.5

Allele description [Variation Report for NM_005343.4(HRAS):c.282C>T (p.His94=)]

NM_005343.4(HRAS):c.282C>T (p.His94=)

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.282C>T (p.His94=)
HGVS:
  • NC_000011.10:g.533774G>A
  • NG_007666.1:g.6777C>T
  • NM_001130442.3:c.282C>T
  • NM_001318054.2:c.-38C>T
  • NM_005343.3:c.282C>T
  • NM_005343.4:c.282C>TMANE SELECT
  • NM_176795.5:c.282C>T
  • NP_001123914.1:p.His94=
  • NP_005334.1:p.His94=
  • NP_789765.1:p.His94=
  • LRG_506t1:c.282C>T
  • LRG_506:g.6777C>T
  • LRG_506p1:p.His94=
  • NC_000011.9:g.533774G>A
  • NM_005343.2:c.282C>T
  • c.282C>T
  • p.His94His
Links:
dbSNP: rs375893752
NCBI 1000 Genomes Browser:
rs375893752
Molecular consequence:
  • NM_001318054.2:c.-38C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.282C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005343.4:c.282C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_176795.5:c.282C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV000062129Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely benign
(Oct 14, 2011)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000062129.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

His94His in exon 3 of HRAS: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located near a splice junction.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 13, 2024