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NM_004958.4(MTOR):c.985G>A (p.Ala329Thr)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Sep 3, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000414904.6
Variation ID:
414904
Description:
single nucleotide variant
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NM_004958.4(MTOR):c.985G>A (p.Ala329Thr)

Allele ID
390754
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 11247950 (GRCh38) GRCh38 UCSC
1: 11308007 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_734:g.19602G>A
LRG_734t1:c.985G>A
NC_000001.10:g.11308007C>T
... more HGVS
Protein change
A329T
Other names
-
Canonical SPDI
NC_000001.11:11247949:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00269
Trans-Omics for Precision Medicine (TOPMed) 0.00272
The Genome Aggregation Database (gnomAD) 0.00188
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00315
1000 Genomes Project 0.00180
The Genome Aggregation Database (gnomAD), exomes 0.00264
Links
ClinGen: CA590835
dbSNP: rs35903812
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 3 criteria provided, single submitter Dec 3, 2020 RCV000457094.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MTOR - - GRCh38
GRCh37
960 1055

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000559018.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001799031.1
Submitted: (Aug 19, 2021)
Evidence details
Benign
(Nov 12, 2018)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001827913.1
Submitted: (Sep 03, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 31486992)

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 rs35903812...

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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 Sep 07, 2021