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NM_001377265.1(MAPT):c.*241dup

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2
First in ClinVar:
Dec 6, 2016
Most recent Submission:
Sep 19, 2021
Last evaluated:
Sep 28, 2018
Accession:
VCV000323654.5
Variation ID:
323654
Description:
1bp duplication
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NM_001377265.1(MAPT):c.*241dup

Allele ID
344848
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46024409-46024410 (GRCh38) GRCh38 UCSC
17: 44101775-44101776 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001377265.1:c.*241dup MANE Select 3 prime UTR
NM_001123066.4:c.*241dup 3 prime UTR
NM_001123067.4:c.*241dup 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:46024409:TTT:TTTT
Functional consequence
-
Global minor allele frequency (GMAF)
0.08606 (TTTT)

Allele frequency
-
Links
ClinGen: CA10649460
dbSNP: rs55661512
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000301434.3
Benign 1 criteria provided, single submitter Sep 28, 2018 RCV001643010.2
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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
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
MAPT-Related Spectrum Disorders
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000403496.2
First in ClinVar: Dec 06, 2016
Last updated: Dec 06, 2016
Benign
(Sep 28, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001856709.1
First in ClinVar: Sep 19, 2021
Last updated: Sep 19, 2021

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 rs55661512...

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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