ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- criteria provided, single submitter
- Submissions:
- 3
- First in ClinVar:
- Feb 20, 2014
- Most recent Submission:
- Feb 3, 2020
- Last evaluated:
- Jan 22, 2018
- Accession:
- VCV000014262.3
- Variation ID:
- 14262
- Description:
- single nucleotide variant
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NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)
- Allele ID
- 29301
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46014286 (GRCh38) GRCh38 UCSC
- 17: 44091652 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001377265.1:c.2135C>T MANE Select NP_001364194.1:p.Ser712Phe missense NM_001123066.4:c.1964C>T NP_001116538.2:p.Ser655Phe missense NM_001123067.4:c.872C>T NP_001116539.1:p.Ser291Phe missense NM_001203251.2:c.779C>T NP_001190180.1:p.Ser260Phe missense NM_001203252.2:c.866C>T NP_001190181.1:p.Ser289Phe missense NM_001377266.1:c.1844C>T NP_001364195.1:p.Ser615Phe missense NM_001377267.1:c.771+8C>T NM_001377268.1:c.692C>T NP_001364197.1:p.Ser231Phe missense NM_005910.6:c.959C>T NP_005901.2:p.Ser320Phe missense NM_016834.5:c.785C>T NP_058518.1:p.Ser262Phe missense NM_016835.5:c.1910C>T NP_058519.3:p.Ser637Phe missense NM_016841.5:c.692C>T NP_058525.1:p.Ser231Phe missense NR_165166.1:n.790C>T NC_000017.11:g.46014286C>T NC_000017.10:g.44091652C>T NG_007398.1:g.124866C>T NG_007398.2:g.124824C>T LRG_660:g.124824C>T LRG_660t1:c.1910C>T LRG_660p1:p.Ser637Phe LRG_660t2:c.2135C>T LRG_660p2:p.Ser712Phe P10636:p.Ser637Phe - Protein change
- S320F, S637F, S291F, S655F, S231F, S260F, S262F, S289F, S615F, S712F
- Other names
- -
- Canonical SPDI
- NC_000017.11:46014285:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA225475
- UniProtKB: P10636#VAR_019665
- OMIM: 157140.0018
- dbSNP: rs63750635
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | criteria provided, single submitter | Jan 22, 2018 | RCV000995804.2 | |
| Pathogenic | 1 | no assertion criteria provided | Mar 1, 2002 | RCV000015331.26 | |
| not provided | 1 | no assertion provided | - | RCV000084544.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Jan 22, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Frontotemporal dementia
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV001150161.1
First in ClinVar: Feb 03, 2020 Last updated: Feb 03, 2020 |
Zygosity: 1 Single Heterozygote
Sex: female
Tissue: blood
|
|
|
Pathogenic
(Mar 01, 2002)
|
no assertion criteria provided
Method: literature only
|
PICK DISEASE
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000035590.2
First in ClinVar: Apr 04, 2013 Last updated: Aug 22, 2016 |
Comment on evidence:
In a patient who presented with presenile dementia characterized by mild memory problems at age 38 years, which progressed to major memory problems, personality changes, … (more)
In a patient who presented with presenile dementia characterized by mild memory problems at age 38 years, which progressed to major memory problems, personality changes, and aphasia at age 47, followed by death at age 53, Rosso et al. (2002) identified a C-to-T transition in exon 11 of the MAPT gene, resulting in a ser320-to-phe (S320F) substitution. Postmortem examination revealed findings consistent with Pick disease (172700), including focal bilateral atrophy of the anterior temporal lobes, extensive tau pathology in the form of Pick-like bodies, and insoluble tau-immunoreactive filaments. In vitro studies showed that the mutation resulted in a markedly reduced ability of tau to promote microtubule assembly. (less)
|
|
|
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: SCV000116680.1
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_188
|
|
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 |
|---|---|---|---|---|
| A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. | Rosso SM | Annals of neurology | 2002 | PMID: 11891833 |
Text-mined citations for rs63750635...
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 Apr 25, 2022