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NM_000051.4(ATM):c.7516-9del

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Nov 6, 2018)
Last evaluated:
Apr 13, 2017
Accession:
VCV000495395.2
Variation ID:
495395
Description:
1bp deletion
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NM_000051.4(ATM):c.7516-9del

Allele ID
487440
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108331428 (GRCh38) GRCh38 UCSC
11: 108202155 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.113604del
NG_009830.1:g.113604del
NC_000011.10:g.108331435del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:108331427:TTTTTTTT:TTTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (TTTTTTTTT)

Allele frequency
-
Links
ClinGen: CA6266134
dbSNP: rs573494809
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 13, 2017 RCV000586409.1
Likely benign 1 criteria provided, single submitter Apr 4, 2017 RCV000611165.1
Likely benign 1 criteria provided, single submitter Sep 29, 2015 RCV000772040.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATM Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
6424 10317
C11orf65 - - - GRCh38
GRCh37
3 3892

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 13, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694355.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The ATM c.7516-9delT variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. … (more)
Likely benign
(Apr 04, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000714496.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Sep 29, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000905046.1
Submitted: (Nov 06, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs573494809...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021