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NM_000051.3(ATM):c.116C>G (p.Thr39Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 30, 2018)
Last evaluated:
Jan 7, 2016
Accession:
VCV000482553.1
Variation ID:
482553
Description:
single nucleotide variant
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NM_000051.3(ATM):c.116C>G (p.Thr39Arg)

Allele ID
475318
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108227819 (GRCh38) GRCh38 UCSC
11: 108098546 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108227819C>G
NC_000011.9:g.108098546C>G
NM_000051.3:c.116C>G NP_000042.3:p.Thr39Arg missense
... more HGVS
Protein change
T39R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA382519841
dbSNP: rs1555054109
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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 Jan 7, 2016 RCV000574764.1
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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 - - GRCh38
GRCh37
4315 6893

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 07, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000667865.2
Submitted: (Jul 30, 2018)
Evidence details

Citations for this variant

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

Record last updated Oct 27, 2019