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NM_000051.3(ATM):c.949G>T (p.Asp317Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 30, 2020)
Last evaluated:
May 10, 2016
Accession:
VCV000478985.3
Variation ID:
478985
Description:
single nucleotide variant
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NM_000051.3(ATM):c.949G>T (p.Asp317Tyr)

Allele ID
475388
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108247011 (GRCh38) GRCh38 UCSC
11: 108117738 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108247011G>T
NC_000011.9:g.108117738G>T
NM_000051.3:c.949G>T NP_000042.3:p.Asp317Tyr missense
... more HGVS
Protein change
D317Y
Other names
-
Canonical SPDI
NC_000011.10:108247010:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA382530854
dbSNP: rs1445292591
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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 May 10, 2016 RCV000573160.1
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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
6238 9982

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 10, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000660611.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.D317Y variant (also known as c.949G>T), located in coding exon 7 of the ATM gene, results from a G to T substitution at nucleotide … (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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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 rs1445292591...

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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 Jan 09, 2021