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NM_001377265.1(MAPT):c.1390G>A (p.Asp464Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Mar 8, 2017
Most recent Submission:
Mar 8, 2017
Last evaluated:
Jan 3, 2017
Accession:
VCV000392600.2
Variation ID:
392600
Description:
single nucleotide variant
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NM_001377265.1(MAPT):c.1390G>A (p.Asp464Asn)

Allele ID
375144
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 44064444 (GRCh37) GRCh37 UCSC
17: 45987078 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001377265.1:c.1390G>A MANE Select NP_001364194.1:p.Asp464Asn missense
NM_001123066.4:c.1165G>A NP_001116538.2:p.Asp389Asn missense
NM_001123067.4:c.325G>A NP_001116539.1:p.Asp109Asn missense
... more HGVS
Protein change
D138N, D389N, D109N, D80N, D464N
Other names
-
Canonical SPDI
NC_000017.11:45987077:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA8617869
dbSNP: rs768615863
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 3, 2017 RCV000443928.1
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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
Uncertain significance
(Jan 03, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000535893.4
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Comment:
The D138N variant in the MAPT gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The … (more)

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 rs768615863...

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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