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NM_004985.5(KRAS):c.183A>C (p.Gln61His) AND Primary intracranial sarcoma, DICER1-mutant

Germline classification:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
Tier II - Diagnostic - supports diagnosis (1 submission)
Last evaluated:
Jul 31, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004698422.1

Allele description [Variation Report for NM_004985.5(KRAS):c.183A>C (p.Gln61His)]

NM_004985.5(KRAS):c.183A>C (p.Gln61His)

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.183A>C (p.Gln61His)
HGVS:
  • NC_000012.12:g.25227341T>G
  • NG_007524.2:g.28663A>C
  • NM_001369786.1:c.183A>C
  • NM_001369787.1:c.183A>C
  • NM_004985.5:c.183A>CMANE SELECT
  • NM_033360.4:c.183A>C
  • NP_001356715.1:p.Gln61His
  • NP_001356716.1:p.Gln61His
  • NP_004976.2:p.Gln61His
  • NP_203524.1:p.Gln61His
  • LRG_344t1:c.183A>C
  • LRG_344t2:c.183A>C
  • LRG_344:g.28663A>C
  • LRG_344p1:p.Gln61His
  • LRG_344p2:p.Gln61His
  • NC_000012.11:g.25380275T>G
  • NG_007524.1:g.28580A>C
  • NM_004985.3:c.183A>C
  • NM_033360.2:c.183A>C
  • NM_033360.4:c.183A>C
  • P01116:p.Gln61His
Protein change:
Q61H
Links:
UniProtKB: P01116#VAR_006841; dbSNP: rs17851045
NCBI 1000 Genomes Browser:
rs17851045
Molecular consequence:
  • NM_001369786.1:c.183A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.183A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.183A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.183A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary intracranial sarcoma, DICER1-mutant
Identifiers:
MONDO: MONDO:0858967; MedGen: C5670660

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005200117Molecular Pathology Unit, Bambino Gesu' Children's Hospital, IRCCS
criteria provided, single submitter

(AMP/ASCO/CAP Guidelines, 2017)		Tier II - Potential - diagnostic, supports diagnosis
(Jul 31, 2024) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN.

J Mol Diagn. 2017 Jan;19(1):4-23. doi: 10.1016/j.jmoldx.2016.10.002. Review.

PubMed [citation]
PMID:
27993330
PMCID:
PMC5707196

Details of each submission

From Molecular Pathology Unit, Bambino Gesu' Children's Hospital, IRCCS, SCV005200117.1

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

Description

This variant is not present in population databases (gnomAD no frequency) and it is reported in Clinvar as conflicting of pathogenicity. This missense change has been observed as a somatic variant in an individual with Dicer1-sarcoma. SIFT Algorithms suggests that this variant is likely to be deleterius. OncoKB database reported this variant as: Oncogenic, Gain-of-function with FDA levels that makes the variant as Tier IIC

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

Last Updated: Oct 20, 2024