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NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln) AND Ovarian cancer

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Nov 2, 2023
Review status:
no classifications from unflagged records
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:
RCV003153415.3

Allele description [Variation Report for NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln)]

NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln)

Gene:
CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.3
Genomic location:
Preferred name:
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln)
HGVS:
  • NC_000009.12:g.21974706G>T
  • NG_007485.1:g.24786C>A
  • NM_000077.5:c.122C>AMANE SELECT
  • NM_001195132.2:c.122C>A
  • NM_001363763.2:c.-3-3498C>A
  • NM_058195.4:c.194-3498C>A
  • NM_058197.5:c.122C>A
  • NP_000068.1:p.Pro41Gln
  • NP_000068.1:p.Pro41Gln
  • NP_001182061.1:p.Pro41Gln
  • NP_478104.2:p.Pro41Gln
  • LRG_11t1:c.122C>A
  • LRG_11:g.24786C>A
  • LRG_11p1:p.Pro41Gln
  • NC_000009.11:g.21974705G>T
  • NM_000077.3:c.122C>A
  • NM_000077.4:c.122C>A
  • p.P41Q
Protein change:
P41Q
Links:
dbSNP: rs373407950
NCBI 1000 Genomes Browser:
rs373407950
Molecular consequence:
  • NM_001363763.2:c.-3-3498C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058195.4:c.194-3498C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000077.5:c.122C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195132.2:c.122C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058197.5:c.122C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ovarian cancer
Synonyms:
OVARIAN CANCER, SOMATIC
Identifiers:
MONDO: MONDO:0008170; MedGen: C1140680; OMIM: 167000

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University, SCV003843797.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003843797Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2022) 		germlineclinical testing

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

Last Updated: Sep 29, 2024