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NM_033360.4(KRAS):c.31_32insGGC (p.Ala11delinsGlyPro) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 24, 2017
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:
RCV000485433.1

Allele description [Variation Report for NM_033360.4(KRAS):c.31_32insGGC (p.Ala11delinsGlyPro)]

NM_033360.4(KRAS):c.31_32insGGC (p.Ala11delinsGlyPro)

Gene:
KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_033360.4(KRAS):c.31_32insGGC (p.Ala11delinsGlyPro)
HGVS:
  • NC_000012.12:g.25245353_25245354insGCC
  • NG_007524.1:g.10567_10568insGGC
  • NG_007524.2:g.10650_10651insGGC
  • NM_001369786.1:c.31_32insGGC
  • NM_001369787.1:c.31_32insGGC
  • NM_004985.5:c.31_32insGGCMANE SELECT
  • NM_033360.4:c.31_32insGGC
  • NP_001356715.1:p.Ala11delinsGlyPro
  • NP_001356716.1:p.Ala11delinsGlyPro
  • NP_004976.2:p.Ala11delinsGlyPro
  • NP_203524.1:p.Ala11delinsGlyPro
  • LRG_344t1:c.31_32insGGC
  • LRG_344t2:c.31_32insGGC
  • LRG_344:g.10650_10651insGGC
  • LRG_344p1:p.Ala11delinsGlyPro
  • LRG_344p2:p.Ala11delinsGlyPro
  • NC_000012.11:g.25398287_25398288insGCC
  • NM_004985.3:c.31_32insGGC
Links:
dbSNP: rs1064796748
NCBI 1000 Genomes Browser:
rs1064796748
Molecular consequence:
  • NM_001369786.1:c.31_32insGGC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001369787.1:c.31_32insGGC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_004985.5:c.31_32insGGC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_033360.4:c.31_32insGGC - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000573790GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Feb 24, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000573790.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.31_32insGGC pathogenic variant in the KRAS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.31_32insGGC variant causes an in-frame deletion of one amino acid, Alanine 11, and insertion at the same location of two amino acids, Glycine and Proline, denoted p.Ala11delinsGlyPro. This amino acid change occurs at a position in the GTP-binding region that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The c.31_32insGGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.31_32insGGC as a pathogenic variant.

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

Last Updated: Apr 23, 2022