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NM_001377265.1(MAPT):c.14G>A (p.Arg5His) 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:
RCV000266864.6

Allele description [Variation Report for NM_001377265.1(MAPT):c.14G>A (p.Arg5His)]

NM_001377265.1(MAPT):c.14G>A (p.Arg5His)

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.14G>A (p.Arg5His)
HGVS:
  • NC_000017.11:g.45962351G>A
  • NG_007398.2:g.72889G>A
  • NM_001123066.4:c.14G>A
  • NM_001123067.4:c.14G>A
  • NM_001203251.2:c.14G>A
  • NM_001203252.2:c.14G>A
  • NM_001377265.1:c.14G>AMANE SELECT
  • NM_001377266.1:c.14G>A
  • NM_001377267.1:c.14G>A
  • NM_001377268.1:c.14G>A
  • NM_005910.6:c.14G>A
  • NM_016834.5:c.14G>A
  • NM_016835.5:c.14G>A
  • NM_016841.5:c.14G>A
  • NP_001116538.2:p.Arg5His
  • NP_001116539.1:p.Arg5His
  • NP_001190180.1:p.Arg5His
  • NP_001190181.1:p.Arg5His
  • NP_001364194.1:p.Arg5His
  • NP_001364195.1:p.Arg5His
  • NP_001364196.1:p.Arg5His
  • NP_001364197.1:p.Arg5His
  • NP_005901.2:p.Arg5His
  • NP_005901.2:p.Arg5His
  • NP_058518.1:p.Arg5His
  • NP_058519.3:p.Arg5His
  • NP_058525.1:p.Arg5His
  • LRG_660t1:c.14G>A
  • LRG_660t2:c.14G>A
  • LRG_660:g.72889G>A
  • LRG_660p1:p.Arg5His
  • LRG_660p2:p.Arg5His
  • NC_000017.10:g.44039717G>A
  • NG_007398.1:g.72930G>A
  • NM_005910.5:c.14G>A
  • NR_165166.1:n.164G>A
  • P10636:p.Arg5His
Protein change:
R5H; ARG5HIS
Links:
UniProtKB: P10636#VAR_019660; OMIM: 157140.0017; dbSNP: rs63750959
NCBI 1000 Genomes Browser:
rs63750959
Molecular consequence:
  • NM_001123066.4:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001123067.4:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001203251.2:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001203252.2:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377265.1:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377266.1:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377267.1:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377268.1:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005910.6:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016834.5:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016835.5:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016841.5:c.14G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165166.1:n.164G>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
SCV000403475Illumina Laboratory Services, Illumina
criteria provided, single submitter

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

PubMed (2)
[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

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM; NIA-LOAD/NCRAD Family Study Consortium..

PLoS One. 2012;7(2):e31039. doi: 10.1371/journal.pone.0031039. Epub 2012 Feb 1. Erratum in: PLoS One. 2012;7(5): doi/10.1371/annotation/c92e16da-7733-421d-b063-1db19488daa6. Haller, Gabe [added]..

PubMed [citation]
PMID:
22312439
PMCID:
PMC3270040

Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.

Hayashi S, Toyoshima Y, Hasegawa M, Umeda Y, Wakabayashi K, Tokiguchi S, Iwatsubo T, Takahashi H.

Ann Neurol. 2002 Apr;51(4):525-30.

PubMed [citation]
PMID:
11921059

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000403475.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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: Sep 29, 2024