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NM_000051.4(ATM):c.7927+13dup AND Familial ovarian cancer

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001354994.10

Allele description [Variation Report for NM_000051.4(ATM):c.7927+13dup]

NM_000051.4(ATM):c.7927+13dup

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.7927+13dup
HGVS:
  • NC_000011.10:g.108332913dup
  • NG_009830.1:g.115082dup
  • NG_054724.1:g.141927dup
  • NM_000051.4:c.7927+13dupMANE SELECT
  • NM_001330368.2:c.641-23835dup
  • NM_001351110.2:c.*38+2314dup
  • NM_001351834.2:c.7927+13dup
  • LRG_135t1:c.7927+13dup
  • LRG_135:g.115082dup
  • NC_000011.9:g.108203632_108203633insT
  • NC_000011.9:g.108203640dup
  • NM_000051.3:c.7927+13dup
  • NM_000051.3:c.7927+13dupT
  • NM_000051.4:c.7927+13dupTMANE SELECT
Links:
dbSNP: rs587781324
NCBI 1000 Genomes Browser:
rs587781324
Molecular consequence:
  • NM_000051.4:c.7927+13dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330368.2:c.641-23835dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+2314dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351834.2:c.7927+13dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Familial ovarian cancer
Identifiers:
MONDO: MONDO:0016248; MedGen: C5679802

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001549742Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001549742.1

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

Description

The ATM c.7927+13dup variant was not identified in the literature nor was it identified in the LOVD 3.0 database. The variant was identified in dbSNP (ID: rs587781324) as "With other allele", ClinVar (classified as benign by Invitae and GeneDx; and as likely benign by Ambry Genetics, Color and Prevention Genetics). The variant was not identified in the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The variant occurs outside of the splicing consensus sequence and 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: Nov 10, 2024