NM_000077.4(CDKN2A):c.-34G>C AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Aug 25, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000236694.3

Allele description [Variation Report for NM_000077.4(CDKN2A):c.-34G>C]

NM_000077.4(CDKN2A):c.-34G>C

Gene:
CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.3
Genomic location:
Preferred name:
NM_000077.4(CDKN2A):c.-34G>C
HGVS:
  • NC_000009.12:g.21974861C>G
  • NG_007485.1:g.24631G>C
  • NM_000077.4:c.-34G>C
  • NM_001195132.1:c.-34G>C
  • NM_001363763.2:c.-3-3653G>C
  • NM_058195.3:c.194-3653G>C
  • LRG_11t1:c.-34G>C
  • LRG_11t2:c.194-3653G>C
  • LRG_11:g.24631G>C
  • NC_000009.11:g.21974860C>G
Links:
dbSNP: rs1800586
NCBI 1000 Genomes Browser:
rs1800586
Molecular consequence:
  • NM_000077.4:c.-34G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001195132.1:c.-34G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001363763.2:c.-3-3653G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058195.3:c.194-3653G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000293103GeneDxcriteria provided, single submitter
Likely benign
(Aug 25, 2017)
germlineclinical testing

Citation Link,

SCV000601027Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Apr 3, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.

Nikolaou V, Kang X, Stratigos A, Gogas H, Latorre MC, Gabree M, Plaka M, Njauw CN, Kypreou K, Mirmigi I, Stefanaki I, Tsao H.

Br J Dermatol. 2011 Dec;165(6):1219-22. doi: 10.1111/j.1365-2133.2011.10551.x. Epub 2011 Nov 2.

PubMed [citation]
PMID:
21801156
PMCID:
PMC3225501

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Liyanarachchi S, Kalady M, Heald B, Greenwood C, Paquette I, et al.

JAMA Oncol. 2017 Apr 1;3(4):464-471. doi: 10.1001/jamaoncol.2016.5194.

PubMed [citation]
PMID:
27978560
PMCID:
PMC5564179
See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000293103.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601027.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2021

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