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 by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ClinVar Genomic variation as it relates to human health
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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
Help
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
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_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 NM_001203251.2:c.445G>A NP_001190180.1:p.Ala149Thr missense NM_001203252.2:c.532G>A NP_001190181.1:p.Ala178Thr missense NM_001377266.1:c.1510G>A NP_001364195.1:p.Ala504Thr missense NM_001377267.1:c.445G>A NP_001364196.1:p.Ala149Thr missense NM_001377268.1:c.358G>A NP_001364197.1:p.Ala120Thr missense NM_005910.6:c.532G>A NP_005901.2:p.Ala178Thr missense NM_016834.5:c.358G>A NP_058518.1:p.Ala120Thr missense NM_016835.5:c.1483G>A NP_058519.3:p.Ala495Thr missense NM_016841.5:c.358G>A NP_058525.1:p.Ala120Thr missense NC_000017.11:g.45991562G>A NC_000017.10:g.44068928G>A NG_007398.1:g.102142G>A NG_007398.2:g.102100G>A LRG_660:g.102100G>A LRG_660t1:c.1483G>A LRG_660p1:p.Ala495Thr LRG_660t2:c.1708G>A LRG_660p2:p.Ala570Thr - 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
Help
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 |
Submitted interpretations and evidence
Help| 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 |
|
|
|
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)
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 by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
|
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
Help| 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
Help| 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...
HelpThese 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