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

Clinical significance:Benign (Last evaluated: Nov 4, 2019)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001030081.1

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]

Condition(s)

Name:
Rasopathy
Synonyms:
rasopathies; Noonan spectrum disorder
Identifiers:
MONDO: MONDO:0021060; MedGen: CN166718

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001192873ClinGen RASopathy Variant Curation Expert Panelreviewed by expert panel
Benign
(Nov 4, 2019)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen RASopathy Variant Curation Expert Panel, SCV001192873.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

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 (BA1; https://gnomad.broadinstitute.org). This variant is not located within the splice consensus sequence and computational splice site prediction tools do not predict an impact on splicing (BP4, BP7). ACMG/AMP Criteria applied: BA1, BP4, BP7.

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

Last Updated: Sep 29, 2021

Support Center