NM_001377265.1(MAPT):c.*1404T>C AND MAPT-Related Spectrum Disorders

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000311569.2

Allele description [Variation Report for NM_001377265.1(MAPT):c.*1404T>C]

NM_001377265.1(MAPT):c.*1404T>C

Genes:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_001377265.1(MAPT):c.*1404T>C
HGVS:
  • NC_000017.11:g.46025575T>C
  • NG_007398.1:g.136164T>C
  • NG_007398.2:g.136113T>C
  • NM_001123066.4:c.*1404T>C
  • NM_001123067.4:c.*1404T>C
  • NM_001203251.2:c.*1404T>C
  • NM_001203252.2:c.*1404T>C
  • NM_001377265.1:c.*1404T>CMANE SELECT
  • NM_001377266.1:c.*1404T>C
  • NM_001377267.1:c.*387T>C
  • NM_001377268.1:c.*1404T>C
  • NM_005910.5:c.*1404T>C
  • NM_005910.6:c.*1404T>C
  • NM_016834.5:c.*1404T>C
  • NM_016835.5:c.*1404T>C
  • NM_016841.5:c.*1404T>C
  • LRG_660t1:c.*1404T>C
  • LRG_660t2:c.*1404T>C
  • LRG_660:g.136113T>C
  • NC_000017.10:g.44102941T>C
  • NR_165166.1:n.2561T>C
Links:
dbSNP: rs530779128
NCBI 1000 Genomes Browser:
rs530779128
Molecular consequence:
  • NM_001123066.4:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001123067.4:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001203251.2:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001203252.2:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377265.1:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377266.1:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377267.1:c.*387T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377268.1:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_005910.5:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_005910.6:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016834.5:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016835.5:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016841.5:c.*1404T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_165166.1:n.2561T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
MAPT-Related Spectrum Disorders
Identifiers:
MedGen: CN239327

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000403519Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000403519.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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