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NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8
First in ClinVar:
Feb 20, 2014
Most recent Submission:
May 16, 2022
Last evaluated:
Dec 17, 2021
Accession:
VCV000098205.14
Variation ID:
98205
Description:
single nucleotide variant
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NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr)

Allele ID
104097
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 45991562 (GRCh38) GRCh38 UCSC
17: 44068928 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001377265.1:c.1708G>A MANE Select NP_001364194.1:p.Ala570Thr missense
NM_001123066.4:c.1483G>A NP_001116538.2:p.Ala495Thr missense
NM_001123067.4:c.445G>A NP_001116539.1:p.Ala149Thr missense
... more HGVS
Protein change
A495T, A178T, A120T, A149T, A504T, A570T
Other names
-
Canonical SPDI
NC_000017.11:45991561:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01478 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01538
The Genome Aggregation Database (gnomAD), exomes 0.00364
1000 Genomes Project 0.01478
The Genome Aggregation Database (gnomAD) 0.01528
The Genome Aggregation Database (gnomAD) 0.01415
Trans-Omics for Precision Medicine (TOPMed) 0.01492
Trans-Omics for Precision Medicine (TOPMed) 0.01618
Exome Aggregation Consortium (ExAC) 0.00422
Links
ClinGen: CA225403
dbSNP: rs63750612
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Mar 19, 2019 RCV000084510.6
Benign 3 criteria provided, single submitter - RCV000246861.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000387650.3
Benign 1 criteria provided, single submitter Dec 17, 2021 RCV001079276.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MAPT No evidence available No evidence available GRCh38
GRCh38
GRCh38
GRCh37
390 515

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Affected status: unknown
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000306668.1
First in ClinVar: Oct 02, 2016
Last updated: Oct 02, 2016
Benign
(Sep 30, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144471.1
First in ClinVar: Jan 18, 2020
Last updated: Jan 18, 2020
Publications:
PubMed (2)
PubMed: 1007689010443890
Benign
(Mar 19, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001841440.1
First in ClinVar: Sep 10, 2021
Last updated: Sep 10, 2021
Benign
(Dec 17, 2021)
criteria provided, single submitter
Method: clinical testing
Frontotemporal dementia
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001001588.4
First in ClinVar: Dec 17, 2019
Last updated: May 16, 2022
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
MAPT-Related Spectrum Disorders
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000403483.3
First in ClinVar: Dec 06, 2016
Last updated: May 31, 2020
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Affected status: yes
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808067.1
First in ClinVar: Aug 25, 2021
Last updated: Aug 25, 2021
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Affected status: yes
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001975313.1
First in ClinVar: Oct 07, 2021
Last updated: Oct 07, 2021
not provided
(-)
no assertion provided
Method: not provided
not provided
Affected status: not provided
Allele origin: not provided
VIB Department of Molecular Genetics, University of Antwerp
Accession: SCV000116646.1
First in ClinVar: Feb 20, 2014
Last updated: Feb 20, 2014
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg18&id=ADM_217

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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Title Author Journal Year Link
Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Houlden H Annals of neurology 1999 PMID: 10443890
Altered conformation of recombinant frontotemporal dementia-17 mutant tau proteins. Jicha GA Neuroscience letters 1999 PMID: 10076890

Text-mined citations for rs63750612...

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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 Aug 24, 2022