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NM_000051.4(ATM):c.7788+3A>G AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 7, 2017
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:
RCV000779769.9

Allele description [Variation Report for NM_000051.4(ATM):c.7788+3A>G]

NM_000051.4(ATM):c.7788+3A>G

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.7788+3A>G
HGVS:
  • NC_000011.10:g.108332040A>G
  • NG_009830.1:g.114209A>G
  • NG_054724.1:g.142793T>C
  • NM_000051.4:c.7788+3A>GMANE SELECT
  • NM_001330368.2:c.641-22969T>C
  • NM_001351110.2:c.*38+3180T>C
  • NM_001351834.2:c.7788+3A>G
  • LRG_135t1:c.7788+3A>G
  • LRG_135:g.114209A>G
  • NC_000011.9:g.108202767A>G
  • NM_000051.3:c.7788+3A>G
Links:
dbSNP: rs869312788
NCBI 1000 Genomes Browser:
rs869312788
Molecular consequence:
  • NM_000051.4:c.7788+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330368.2:c.641-22969T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+3180T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351834.2:c.7788+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000916558Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Sep 7, 2017) 		germlineclinical testing

Citation Link

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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, SCV000916558.1

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

Description

Variant summary: The ATM c.7788+3A>G variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict the weakening or loss of a 5' splice donor site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 119830 control chromosomes and was reported in one patient with AT along with a truncating ATM mutation and one patient with ovarian cancer in the literature. One clinical diagnostic laboratory/reputable database classified this variant as uncertain significance. Taken together, this variant is classified as VUS.

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

Last Updated: Sep 8, 2024