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NM_000051.3(ATM):c.728T>C (p.Leu243Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 13, 2017
Accession:
VCV000185337.2
Variation ID:
185337
Description:
single nucleotide variant
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NM_000051.3(ATM):c.728T>C (p.Leu243Ser)

Allele ID
183108
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108244853 (GRCh38) GRCh38 UCSC
11: 108115580 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108244853T>C
NC_000011.9:g.108115580T>C
NM_001351834.2:c.728T>C NP_001338763.1:p.Leu243Ser missense
... more HGVS
Protein change
L243S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA191675
dbSNP: rs786202096
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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 Jun 13, 2017 RCV000164740.2
Uncertain significance 1 criteria provided, single submitter Dec 24, 2016 RCV000476928.1
Uncertain significance 1 criteria provided, single submitter Mar 26, 2015 RCV000479879.1
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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
(Jun 13, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215412.4
Submitted: (Jul 30, 2018)
Evidence details
Publications
PubMed (2)
Comment:
Lines of evidence used in support of classification: Insufficient evidence
Uncertain significance
(Mar 26, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000566091.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted ATM c.728T>C at the cDNA level, p.Leu243Ser (L243S) at the protein level, and results in the change of a Leucine to ... (more)
Uncertain significance
(Dec 24, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000546853.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces leucine with serine at codon 243 of the ATM protein (p.Leu243Ser). The leucine residue is weakly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. Tung N Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 PMID: 26976419
Antitumor response of an ERBB2 amplified inflammatory breast carcinoma with EGFR mutation to the EGFR-TKI erlotinib. Ali SM Clinical breast cancer 2014 PMID: 24201163

Record last updated Nov 06, 2019