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NM_001377265.1(MAPT):c.*3078=

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000323715.2
Variation ID:
323715
Description:
duplication
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NM_001377265.1(MAPT):c.*3078=

Allele ID
344906
Variant type
Duplication
Variant length
-
Cytogenetic location
17q21.31
Genomic location
17: 46027249 (GRCh38) GRCh38 UCSC
17: 44104615 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_660:g.137787=
LRG_660t2:c.*3078=
LRG_660t1:c.*3078=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:46027248:G:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10649497
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 RCV000356132.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000358856.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh38
GRCh37
886 1045
MAPT No evidence available No evidence available GRCh38
GRCh38
GRCh38
GRCh37
327 465

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Intellectual Disability Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483620.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
MAPT-Related Spectrum Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000403557.2
Submitted: (Oct 18, 2016)
Evidence details

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.

Record last updated Dec 04, 2021