NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 24, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000483094.2

Allele description [Variation Report for NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)]

NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)

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.8814_8824del (p.Met2938fs)
HGVS:
  • NC_000011.10:g.108354838_108354848del
  • NG_009830.1:g.137007_137017del
  • NG_054724.1:g.119985_119995del
  • NM_000051.3:c.8814_8824del
  • NM_000051.4:c.8814_8824delMANE SELECT
  • NM_001330368.2:c.640+31072_640+31082del
  • NM_001351110.2:c.695-19556_695-19546del
  • NM_001351834.2:c.8814_8824del
  • NP_000042.3:p.Met2938fs
  • NP_000042.3:p.Met2938fs
  • NP_001338763.1:p.Met2938fs
  • LRG_135t1:c.8814_8824del
  • LRG_135:g.137007_137017del
  • LRG_135p1:p.Met2938fs
  • NC_000011.9:g.108225565_108225575del
  • NC_000011.9:g.108225565_108225575del
  • NM_000051.3:c.8814_8824del
  • NM_000051.3:c.8814_8824delGAGAAACTCTC
Protein change:
M2938fs
Links:
dbSNP: rs758814126
NCBI 1000 Genomes Browser:
rs758814126
Molecular consequence:
  • NM_000051.3:c.8814_8824del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000051.4:c.8814_8824del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.8814_8824del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.640+31072_640+31082del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.695-19556_695-19546del - 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
SCV000568342GeneDxcriteria provided, single submitter
Pathogenic
(Jun 24, 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, SCV000568342.5

#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 2016); This variant is associated with the following publications: (PMID: 9450906, 9497252, 9887333, 23454770, 10864201, 17910737, 29625052)

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

Last Updated: Nov 20, 2021

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