MAPT R370W - GET-Evidence

Curation:
Currentness:

MAPT R370W

(MAPT Arg370Trp)


Short summary

Probably benign.

Variant evidence
Computational -1

Polyphen 2 predicts “probably damaging”, BLOSUM100 score indicates disruptive effect

Functional -
Case/Control 5

Allele frequency of this variant (~11%) strongly contradicts a severe pathogenic effect

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr17:44061278: 15.6% (1539/9894) in EVS
  • T @ chr17:41417114: 10.9% (14/128) in GET-Evidence
  • Frequency shown in summary reports: 15.6% (1539/9894)

Publications
 

Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum Mutat. 2004 Oct;24(4):277-95. Review. PubMed PMID: 15365985.

Listed as a polymorphism in Table 2 (non-pathogenic).

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr17:44061278

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr17:44061278

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr17:44061278

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr17:44061278

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr17:44061278

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr17:44061278

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom T @ chr17:44061278

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr17:44061278

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr17:44061278

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr17:41417115

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr17:41417115

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr17:41417115

 

GS20509 - var-GS20509-1100-36-ASM
hom T @ chr17:41417115

 

NA12878

 

Other external references
 

    dbSNP
  • rs17651549
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.996 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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