NM_000051.4(ATM):c.7516-9del AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000051.4(ATM):c.7516-9del]


ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
  • NC_000011.10:g.108331435del
  • NG_009830.1:g.113604del
  • NG_009830.1:g.113604del
  • NG_054724.1:g.143405del
  • NM_000051.4:c.7516-9delMANE SELECT
  • NM_001330368.2:c.641-22357del
  • NM_001351110.2:c.*38+3792del
  • NM_001351834.2:c.7516-9del
  • LRG_135:g.113604del
  • NC_000011.9:g.108202162del
  • NM_000051.3:c.7516-16delT
  • NM_000051.3:c.7516-9delT
  • NR_147053.3:n.2512del
dbSNP: rs573494809
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000051.4:c.7516-9del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330368.2:c.641-22357del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+3792del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351834.2:c.7516-9del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_147053.3:n.2512del - non-coding transcript variant - [Sequence Ontology: SO:0001619]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000694355Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Apr 13, 2017)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000694355.1

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


Variant summary: The ATM c.7516-9delT variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 13/100726 control chromosomes at a frequency of 0.0001291, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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

Last Updated: Dec 4, 2021

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