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NM_000051.3(ATM):c.1006T>C (p.Phe336Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 30, 2018)
Last evaluated:
Jan 24, 2017
Accession:
VCV000481327.1
Variation ID:
481327
Description:
single nucleotide variant
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NM_000051.3(ATM):c.1006T>C (p.Phe336Leu)

Allele ID
475401
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108247068 (GRCh38) GRCh38 UCSC
11: 108117795 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108247068T>C
NC_000011.9:g.108117795T>C
NM_000051.3:c.1006T>C NP_000042.3:p.Phe336Leu missense
... more HGVS
Protein change
F336L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA382531392
dbSNP: rs1555068485
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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 24, 2017 RCV000562721.1
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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 6895

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 24, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000665644.2
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)

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