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NM_016835.4(MAPT):c.1632A>G (p.Ala544=) AND MAPT-Related Spectrum Disorders

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000295833.1

Allele description

NM_016835.4(MAPT):c.1632A>G (p.Ala544=)

Gene:
MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_016835.4(MAPT):c.1632A>G (p.Ala544=)
HGVS:
  • NC_000017.11:g.45996523A>G
  • NG_007398.1:g.107103A>G
  • NM_001123066.3:c.1686A>G
  • NM_001123067.3:c.594A>G
  • NM_001203251.2:c.594A>G
  • NM_001203252.1:c.681A>G
  • NM_005910.5:c.681A>G
  • NM_016834.5:c.507A>G
  • NM_016835.4:c.1632A>G
  • NM_016841.5:c.507A>G
  • NP_001116538.2:p.Ala562=
  • NP_001116539.1:p.Ala198=
  • NP_001190180.1:p.Ala198=
  • NP_001190181.1:p.Ala227=
  • NP_005901.2:p.Ala227=
  • NP_058518.1:p.Ala169=
  • NP_058519.3:p.Ala544=
  • NP_058525.1:p.Ala169=
  • NC_000017.10:g.44073889A>G
  • p.Ala227Ala
Links:
dbSNP: rs1052553
NCBI 1000 Genomes Browser:
rs1052553
Molecular consequence:
  • NM_001123066.3:c.1686A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001123067.3:c.594A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001203251.2:c.594A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001203252.1:c.681A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005910.5:c.681A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016834.5:c.507A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016835.4:c.1632A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016841.5:c.507A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000403484Illumina Clinical Services Laboratory,Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

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, SCV000403484.2

#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: Nov 2, 2019