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NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) AND MAPT-Related Spectrum Disorders

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV000356485.7

Allele description [Variation Report for NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr)]

NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr)

Gene:
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.1630G>A (p.Ala544Thr)
HGVS:
  • NC_000017.11:g.45991484G>A
  • NG_007398.2:g.102022G>A
  • NM_001123066.4:c.1405G>A
  • NM_001123067.4:c.367G>A
  • NM_001203251.2:c.367G>A
  • NM_001203252.2:c.454G>A
  • NM_001377265.1:c.1630G>AMANE SELECT
  • NM_001377266.1:c.1432G>A
  • NM_001377267.1:c.367G>A
  • NM_001377268.1:c.280G>A
  • NM_005910.6:c.454G>A
  • NM_016834.5:c.280G>A
  • NM_016835.5:c.1405G>A
  • NM_016841.5:c.280G>A
  • NP_001116538.2:p.Ala469Thr
  • NP_001116539.1:p.Ala123Thr
  • NP_001190180.1:p.Ala123Thr
  • NP_001190181.1:p.Ala152Thr
  • NP_001364194.1:p.Ala544Thr
  • NP_001364195.1:p.Ala478Thr
  • NP_001364196.1:p.Ala123Thr
  • NP_001364197.1:p.Ala94Thr
  • NP_005901.2:p.Ala152Thr
  • NP_005901.2:p.Ala152Thr
  • NP_058518.1:p.Ala94Thr
  • NP_058519.3:p.Ala469Thr
  • NP_058525.1:p.Ala94Thr
  • LRG_660t1:c.1405G>A
  • LRG_660t2:c.1630G>A
  • LRG_660:g.102022G>A
  • LRG_660p1:p.Ala469Thr
  • LRG_660p2:p.Ala544Thr
  • NC_000017.10:g.44068850G>A
  • NG_007398.1:g.102064G>A
  • NM_005910.5:c.454G>A
  • NR_165166.1:n.517G>A
Protein change:
A123T
Links:
dbSNP: rs143624519
NCBI 1000 Genomes Browser:
rs143624519
Molecular consequence:
  • NM_001123066.4:c.1405G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001123067.4:c.367G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001203251.2:c.367G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001203252.2:c.454G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377265.1:c.1630G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377266.1:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377267.1:c.367G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377268.1:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005910.6:c.454G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016834.5:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016835.5:c.1405G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016841.5:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165166.1:n.517G>A - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000403480Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.

Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A; Ibero-American Alzheimer Disease Genetics Group Researchers., Cruchaga C.

Alzheimers Res Ther. 2012 Aug 20;4(4):34. doi: 10.1186/alzrt137.

PubMed [citation]
PMID:
22906081
PMCID:
PMC3506948

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.

Kara E, Ling H, Pittman AM, Shaw K, de Silva R, Simone R, Holton JL, Warren JD, Rohrer JD, Xiromerisiou G, Lees A, Hardy J, Houlden H, Revesz T.

Neurobiol Aging. 2012 Sep;33(9):2231.e7-2231.e14. doi: 10.1016/j.neurobiolaging.2012.04.006. Epub 2012 May 16.

PubMed [citation]
PMID:
22595371
PMCID:
PMC3657164
See all PubMed Citations (6)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000403480.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024