rs62063786
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001377265.1(MAPT):c.1078G>A(p.Asp360Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.189 in 1,613,904 control chromosomes in the GnomAD database, including 32,809 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. D360D) has been classified as Benign.
Frequency
Consequence
NM_001377265.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAPT | NM_001377265.1 | c.1078G>A | p.Asp360Asn | missense_variant | Exon 5 of 13 | ENST00000262410.10 | NP_001364194.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAPT | ENST00000262410.10 | c.1078G>A | p.Asp360Asn | missense_variant | Exon 5 of 13 | 1 | NM_001377265.1 | ENSP00000262410.6 |
Frequencies
GnomAD3 genomes AF: 0.145 AC: 22081AN: 152124Hom.: 2144 Cov.: 33
GnomAD3 exomes AF: 0.146 AC: 36521AN: 250866Hom.: 3542 AF XY: 0.149 AC XY: 20234AN XY: 135770
GnomAD4 exome AF: 0.194 AC: 283018AN: 1461662Hom.: 30667 Cov.: 36 AF XY: 0.191 AC XY: 139000AN XY: 727122
GnomAD4 genome AF: 0.145 AC: 22071AN: 152242Hom.: 2142 Cov.: 33 AF XY: 0.136 AC XY: 10121AN XY: 74442
ClinVar
Submissions by phenotype
not specified Benign:3
- -
- -
- -
not provided Benign:2Other:1
This variant is associated with the following publications: (PMID: 23222517) -
- -
- -
Frontotemporal dementia Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at