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NM_033360.4(KRAS):c.*101_*106del AND RASopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 10, 2023
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:
RCV000804507.5

Allele description [Variation Report for NM_033360.4(KRAS):c.*101_*106del]

NM_033360.4(KRAS):c.*101_*106del

Gene:
KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_033360.4(KRAS):c.*101_*106del
HGVS:
  • NC_000012.12:g.25209815_25209820del
  • NG_007524.2:g.46189_46194del
  • NM_001369786.1:c.*101_*106del
  • NM_001369787.1:c.547_552del
  • NM_004985.5:c.547_552delMANE SELECT
  • NM_033360.4:c.*101_*106del
  • NP_001356716.1:p.Thr183_Lys184del
  • NP_004976.2:p.Thr183_Lys184del
  • LRG_344t1:c.547_552del
  • LRG_344t2:c.*101_*106del
  • LRG_344:g.46189_46194del
  • LRG_344p1:p.Thr183_Lys184del
  • NC_000012.11:g.25362744_25362749del
  • NC_000012.11:g.25362749_25362754del
  • NG_007524.1:g.46106_46111del
  • NM_004985.4:c.547_552delACAAAG
Links:
dbSNP: rs1339924833
NCBI 1000 Genomes Browser:
rs1339924833
Molecular consequence:
  • NM_001369786.1:c.*101_*106del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_033360.4:c.*101_*106del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369787.1:c.547_552del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004985.5:c.547_552del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
RASopathy
Synonyms:
rasopathies; Noonan spectrum disorder
Identifiers:
MONDO: MONDO:0021060; MedGen: C5555857

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000944419Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 10, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.

Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan..

Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11.

PubMed [citation]
PMID:
22495831

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000944419.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant, c.547_552del, results in the deletion of 2 amino acid(s) of the KRAS protein (p.Thr183_Lys184del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has been observed in individual(s) with cardio-facio-cutaneous syndrome (PMID: 22495831). ClinVar contains an entry for this variant (Variation ID: 620625). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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

Last Updated: Jun 17, 2024