U.S. flag

An official website of the United States government

  • replaced

NM_000077.4(CDKN2A):c.151-1G>C AND Tumor susceptibility linked to germline BAP1 mutations

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 18, 2015
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:
RCV000222665.1

Allele description

NM_000077.4(CDKN2A):c.151-1G>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.151-1G>C
HGVS:
  • NC_000009.12:g.21971209C>G
  • NG_007485.1:g.28283G>C
  • NM_000077.4:c.151-1G>C
  • NM_058195.3:c.194-1G>C
  • LRG_11t1:c.151-1G>C
  • LRG_11t2:c.194-1G>C
  • LRG_11:g.28283G>C
  • NC_000009.11:g.21971208C>G
Links:
dbSNP: rs730881677
NCBI 1000 Genomes Browser:
rs730881677
Molecular consequence:
  • NM_000077.4:c.151-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Tumor susceptibility linked to germline BAP1 mutations (TPDS)
Synonyms:
Tumor predisposition syndrome
Identifiers:
MedGen: C3280492; Orphanet: 289539; OMIM: 614327
Age of onset:
Adult

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000277276Ambry Genetics,
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (9/4/14))		Pathogenic
(Jul 18, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics,, SCV000277276.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 29, 2016