NM_000051.4(ATM):c.4776+1G>T AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jul 6, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001560132.2

Allele description [Variation Report for NM_000051.4(ATM):c.4776+1G>T]

NM_000051.4(ATM):c.4776+1G>T

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.4776+1G>T
HGVS:
  • NC_000011.10:g.108293478G>T
  • NG_009830.1:g.75647G>T
  • NM_000051.4:c.4776+1G>TMANE SELECT
  • NM_001351834.2:c.4776+1G>T
  • LRG_135t1:c.4776+1G>T
  • LRG_135:g.75647G>T
  • NC_000011.9:g.108164205G>T
  • NM_000051.3:c.4776+1G>T
Links:
dbSNP: rs771117943
NCBI 1000 Genomes Browser:
rs771117943
Molecular consequence:
  • NM_000051.4:c.4776+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351834.2:c.4776+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001782480GeneDxcriteria provided, single submitter
Likely pathogenic
(Jul 6, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001782480.1

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

Description

Canonical splice site variant demonstrated to result in an in-frame deletion of exon 31 (Fivet 2019); Observed in an individual with familial breast cancer; however, the variant was not found in an affected sister (Bubien 2017); Observed with other ATM variants in unrelated patients with ataxia-telangiectasia, but it was not reported whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Broccoletti 2011, Fivet 2019); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31050087, 22763152, 28691344, 20840352)

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

Last Updated: Nov 27, 2021

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