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NM_001377265.1(MAPT):c.1857A>G (p.Ala619=)

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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 10, 2021
Accession:
VCV000098207.14
Variation ID:
98207
Description:
single nucleotide variant
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NM_001377265.1(MAPT):c.1857A>G (p.Ala619=)

Allele ID
104099
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 45996523 (GRCh38) GRCh38 UCSC
17: 44073889 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001377265.1:c.1857A>G MANE Select NP_001364194.1:p.Ala619= synonymous
NM_001123066.4:c.1686A>G NP_001116538.2:p.Ala562= synonymous
NM_001123067.4:c.594A>G NP_001116539.1:p.Ala198= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:45996522:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.08826 (G)

Allele frequency
1000 Genomes Project 0.08826
Exome Aggregation Consortium (ExAC) 0.14580
Trans-Omics for Precision Medicine (TOPMed) 0.15055
The Genome Aggregation Database (gnomAD) 0.12790
The Genome Aggregation Database (gnomAD), exomes 0.14464
The Genome Aggregation Database (gnomAD) 0.14782
Trans-Omics for Precision Medicine (TOPMed) 0.15029
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.16392
Links
ClinGen: CA225407
dbSNP: rs1052553
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 RCV000243822.7
Benign 2 criteria provided, single submitter Aug 11, 2018 RCV000084512.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000295833.3
Benign 1 criteria provided, single submitter Dec 10, 2021 RCV001510740.4
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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: SCV000306670.1
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: SCV000614046.1
First in ClinVar: Oct 02, 2016
Last updated: Oct 02, 2016
Benign
(Dec 10, 2021)
criteria provided, single submitter
Method: clinical testing
Frontotemporal dementia
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001717850.2
First in ClinVar: Jun 15, 2021
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: SCV000403484.3
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
(Aug 11, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001873336.1
First in ClinVar: Sep 19, 2021
Last updated: Sep 19, 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: SCV001808841.1
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: SCV001918497.1
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001959277.1
First in ClinVar: Oct 02, 2021
Last updated: Oct 02, 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: SCV001967329.1
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: SCV000116648.1
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_219

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 rs1052553...

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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