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NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)

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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
Nucleotide Protein Molecular
consequence
NM_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
... more HGVS
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
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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
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
Publications:
PubMed (1)
PubMed: 11891833
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)
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

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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
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...

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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 Apr 25, 2022