NM_004985.5(KRAS):c.-160A>G AND not specified

Clinical significance:Likely benign (Last evaluated: Sep 27, 2010)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000150899.1

Allele description [Variation Report for NM_004985.5(KRAS):c.-160A>G]

NM_004985.5(KRAS):c.-160A>G

Gene:
KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_004985.5(KRAS):c.-160A>G
HGVS:
  • NC_000012.12:g.25250899T>C
  • NG_007524.1:g.5022A>G
  • NG_007524.2:g.5105A>G
  • NM_001369786.1:c.-147A>G
  • NM_001369787.1:c.-147A>G
  • NM_004985.5:c.-160A>GMANE SELECT
  • NM_033360.4:c.-160A>G
  • LRG_344t1:c.-160A>G
  • LRG_344t2:c.-160A>G
  • LRG_344:g.5105A>G
  • NC_000012.11:g.25403833T>C
  • NM_004985.3:c.-160A>G
  • NM_004985.5(KRAS):c.-160A>GMANE SELECT
Links:
dbSNP: rs727503111
NCBI 1000 Genomes Browser:
rs727503111
Molecular consequence:
  • NM_001369786.1:c.-147A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369787.1:c.-147A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004985.5:c.-160A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_033360.4:c.-160A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
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
SCV000198484Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Sep 27, 2010)
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, Partners HealthCare Personalized Medicine, SCV000198484.4

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

Description

The -160A>G variant in KRAS has not been previously reported in the literature n or been identified by our laboratory. This variant occurs in the 5' UTR of the g ene. Although mutations in 5' UTRs of genes have been shown to affect gene regul ation, no pathogenic mutations in the 5' UTR of KRAS have been reported to date. Therefore, this variant is likely benign, although we cannot rule out that it could contribute to the clinical features observed in this individual.

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

Last Updated: Sep 29, 2021

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