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NM_001377265.1(MAPT):c.*2806A>C AND Syndromic intellectual disability

Clinical significance: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:
RCV000313182.3

Allele description [Variation Report for NM_001377265.1(MAPT):c.*2806A>C]

NM_001377265.1(MAPT):c.*2806A>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.*2806A>C
HGVS:
  • NC_000017.11:g.46026977A>C
  • NG_007398.1:g.137566A>C
  • NG_007398.2:g.137515A>C
  • NM_001123066.4:c.*2806A>C
  • NM_001123067.4:c.*2806A>C
  • NM_001203251.2:c.*2806A>C
  • NM_001203252.2:c.*2806A>C
  • NM_001377265.1:c.*2806A>CMANE SELECT
  • NM_001377266.1:c.*2806A>C
  • NM_001377267.1:c.*1789A>C
  • NM_001377268.1:c.*2806A>C
  • NM_005910.6:c.*2806A>C
  • NM_016834.5:c.*2806A>C
  • NM_016835.5:c.*2806A>C
  • NM_016841.5:c.*2806A>C
  • LRG_660t1:c.*2806A>C
  • LRG_660t2:c.*2806A>C
  • LRG_660:g.137515A>C
  • NC_000017.10:g.44104343A>C
  • NM_001123066.3:c.*2806A>C
  • NM_005910.5:c.*2806A>C
  • NR_165166.1:n.3963A>C
Links:
dbSNP: rs2158257
NCBI 1000 Genomes Browser:
rs2158257
Molecular consequence:
  • NM_001123066.4:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001123067.4:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001203251.2:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001203252.2:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377265.1:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377266.1:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377267.1:c.*1789A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377268.1:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_005910.6:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016834.5:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016835.5:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016841.5:c.*2806A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_165166.1:n.3963A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Syndromic intellectual disability
Synonyms:
Intellectual disability syndrome
Identifiers:
MONDO: MONDO:0000508; MedGen: CN225415

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000483613Illumina Laboratory Services,Illuminacriteria provided, single submitter
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 Laboratory Services,Illumina, SCV000483613.2

#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: Apr 23, 2022

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