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NM_000051.4(ATM):c.6096-9_6096-5del AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 1, 2023
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:
RCV000236366.11

Allele description [Variation Report for NM_000051.4(ATM):c.6096-9_6096-5del]

NM_000051.4(ATM):c.6096-9_6096-5del

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.6096-9_6096-5del
HGVS:
  • NC_000011.10:g.108316002_108316006del
  • NG_009830.1:g.98171_98175del
  • NG_054724.1:g.158831_158835del
  • NM_000051.4:c.6096-9_6096-5delMANE SELECT
  • NM_001330368.2:c.641-6931_641-6927del
  • NM_001351110.2:c.*39-6931_*39-6927del
  • NM_001351834.2:c.6096-9_6096-5del
  • LRG_135t1:c.6096-9_6096-5del
  • LRG_135:g.98171_98175del
  • NC_000011.9:g.108186725_108186729del
  • NC_000011.9:g.108186729_108186733del
  • NM_000051.3:c.6096-9_6096-5del
  • NM_000051.3:c.6096-9_6096-5del5
  • NM_000051.3:c.6096-9_6096-5delTTCTT
Links:
dbSNP: rs879254095
NCBI 1000 Genomes Browser:
rs879254095
Molecular consequence:
  • NM_000051.4:c.6096-9_6096-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330368.2:c.641-6931_641-6927del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-6931_*39-6927del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351834.2:c.6096-9_6096-5del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293437GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Aug 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293437.11

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

Description

Non-canonical splice site variant demonstrated to cause aberrant splicing, resulting in out-of-frame exon skipping (Sandoval et al., 1999; Soukupova et al., 2008); Not observed at significant frequency in large population cohorts (gnomAD); Identified in a patient with ataxia telangiectasia (Sandoval et al., 1999); Observed in a patient with breast cancer (Soukupova et al., 2008); This variant is associated with the following publications: (PMID: 32295079, 9887333, 1849795, 18497957)

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

Last Updated: Nov 3, 2024