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NM_001377265.1(MAPT):c.1986G>A (p.Pro662=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10
First in ClinVar:
Feb 20, 2014
Most recent Submission:
May 16, 2022
Last evaluated:
Dec 18, 2021
Accession:
VCV000098211.15
Variation ID:
98211
Description:
single nucleotide variant
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NM_001377265.1(MAPT):c.1986G>A (p.Pro662=)

Allele ID
104103
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 45996652 (GRCh38) GRCh38 UCSC
17: 44074018 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001377265.1:c.1986G>A MANE Select NP_001364194.1:p.Pro662= synonymous
NM_001123066.4:c.1815G>A NP_001116538.2:p.Pro605= synonymous
NM_001123067.4:c.723G>A NP_001116539.1:p.Pro241= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:45996651:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.03295 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.03595
The Genome Aggregation Database (gnomAD) 0.03713
1000 Genomes Project 0.03295
The Genome Aggregation Database (gnomAD) 0.03866
The Genome Aggregation Database (gnomAD), exomes 0.03521
Trans-Omics for Precision Medicine (TOPMed) 0.03889
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.04306
Links
ClinGen: CA225419
dbSNP: rs11568305
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 6 criteria provided, multiple submitters, no conflicts Feb 25, 2011 RCV000253733.5
Benign 2 criteria provided, single submitter Sep 8, 2021 RCV000084518.5
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000347983.3
Benign 1 criteria provided, single submitter Dec 18, 2021 RCV000554260.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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: SCV000306672.1
First in ClinVar: Oct 02, 2016
Last updated: Oct 02, 2016
Benign
(Feb 25, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: unknown
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000614048.1
First in ClinVar: Oct 02, 2016
Last updated: Oct 02, 2016
Publications:
PubMed (4)
PubMed: 9973279190910591885486725671699
Benign
(Sep 08, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001802690.2
First in ClinVar: Aug 21, 2021
Last updated: Nov 06, 2021
Comment:
This variant is associated with the following publications: (PMID: 12826737, 26159191, 18854867, 19091059, 9973279, 20020531, 16410051, 25671699)
Benign
(Dec 18, 2021)
criteria provided, single submitter
Method: clinical testing
Frontotemporal dementia
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000632353.4
First in ClinVar: Dec 26, 2017
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: SCV000403488.3
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, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001932705.1
First in ClinVar: Sep 24, 2021
Last updated: Sep 24, 2021
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: SCV001808623.1
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, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001922507.1
First in ClinVar: Sep 24, 2021
Last updated: Sep 24, 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: SCV001970438.1
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: SCV000116654.1
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_222

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
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes. Prescott NJ PLoS genetics 2015 PMID: 25671699
H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers. Canu E European journal of human genetics : EJHG 2009 PMID: 18854867
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland. Kaivorinne AL BMC neurology 2008 PMID: 19091059
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Rizzu P American journal of human genetics 1999 PMID: 9973279

Text-mined citations for rs11568305...

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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