NM_000051.4(ATM):c.7880del (p.Tyr2627fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000657502.2

Allele description [Variation Report for NM_000051.4(ATM):c.7880del (p.Tyr2627fs)]

NM_000051.4(ATM):c.7880del (p.Tyr2627fs)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
HGVS:
  • NC_000011.10:g.108332853del
  • NG_009830.1:g.115022del
  • NG_054724.1:g.141980del
  • NM_000051.4:c.7880delMANE SELECT
  • NM_001330368.2:c.641-23782del
  • NM_001351110.2:c.*38+2367del
  • NM_001351834.2:c.7880del
  • NP_000042.3:p.Tyr2627fs
  • NP_001338763.1:p.Tyr2627fs
  • LRG_135t1:c.7880del
  • LRG_135:g.115022del
  • NC_000011.9:g.108203580del
  • NM_000051.3:c.7880del
  • NM_000051.3:c.7880delA
Protein change:
Y2627fs
Links:
dbSNP: rs1057516599
NCBI 1000 Genomes Browser:
rs1057516599
Molecular consequence:
  • NM_000051.4:c.7880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.7880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.641-23782del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+2367del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000779237GeneDxcriteria provided, single submitter
Pathogenic
(Sep 16, 2019)
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, SCV000779237.3

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29922827)

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

Last Updated: Nov 27, 2021

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