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NM_000051.4(ATM):c.8151G>A (p.Lys2717=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 20, 2019
Accession:
VCV000827482.5
Variation ID:
827482
Description:
single nucleotide variant
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NM_000051.4(ATM):c.8151G>A (p.Lys2717=)

Allele ID
810683
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108335109 (GRCh38) GRCh38 UCSC
11: 108205836 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108335109G>A
NC_000011.9:g.108205836G>A
NM_000051.4:c.8151G>A MANE Select NP_000042.3:p.Lys2717= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:108335108:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1591192550
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 Oct 20, 2019 RCV001207545.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 1, 2019 RCV001027230.2
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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
6379 10227
C11orf65 - - - GRCh38
GRCh37
3 3848

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 19, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001342031.1
Submitted: (May 19, 2020)
Evidence details
Likely pathogenic
(Jul 01, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001189748.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.8151G>A variant (also known as p.K2717K), located in coding exon 54 of the ATM gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Oct 20, 2019)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV001378905.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects codon 2717 of the ATM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)

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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Title Author Journal Year Link
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs1591192550...

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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 Mar 07, 2021