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

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Interpretation:
Benign​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
3 (Most recent: Mar 6, 2020)
Last evaluated:
Nov 4, 2019
Accession:
VCV000163771.3
Variation ID:
163771
Description:
single nucleotide variant
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NM_004985.5(KRAS):c.-160A>G

Allele ID
175718
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p12.1
Genomic location
12: 25250899 (GRCh38) GRCh38 UCSC
12: 25403833 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_344:g.5105A>G
LRG_344t1:c.-160A>G
LRG_344t2:c.-160A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:25250898:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00100
Trans-Omics for Precision Medicine (TOPMed) 0.00123
Links
ClinGen: CA176498
dbSNP: rs727503111
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 reviewed by expert panel Nov 4, 2019 RCV001030081.1
Likely benign 1 criteria provided, single submitter Sep 27, 2010 RCV000150899.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000357915.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KRAS No evidence available No evidence available GRCh38
GRCh37
298 329

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 04, 2019)
reviewed by expert panel
Method: curation
Rasopathy
(Autosomal dominant inheritance)
Allele origin: germline
ClinGen RASopathy Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV001192873.1
Submitted: (Mar 06, 2020)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
The c.-160A>G variant in KRAS is classified as benign because it has been identified in 0.22088% (95% CI of 27/8628) of African alleles in gnomAD … (more)
Likely benign
(Sep 27, 2010)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000198484.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
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 … (more)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Noonan Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000377757.2
Submitted: (Oct 18, 2016)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/314b9d63-58ac-4c72-a617-acc0ca7dfa74 - - - -

Text-mined citations for rs727503111...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021