NM_014363.6:c.1519A>G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM2BP4_StrongBP6BS1
The NM_014363.6(SACS):āc.1519A>Gā(p.Thr507Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000372 in 1,614,098 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. T507T) has been classified as Likely benign.
Frequency
Consequence
NM_014363.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152106Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000836 AC: 21AN: 251218Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135820
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461874Hom.: 0 Cov.: 34 AF XY: 0.0000165 AC XY: 12AN XY: 727236
GnomAD4 genome AF: 0.000184 AC: 28AN: 152224Hom.: 0 Cov.: 33 AF XY: 0.000188 AC XY: 14AN XY: 74414
ClinVar
Submissions by phenotype
Charlevoix-Saguenay spastic ataxia Uncertain:2
- -
- -
not specified Benign:1
- -
Spastic paraplegia Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at