chr6-147315617-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001127715.4(STXBP5):āc.1505A>Gā(p.Tyr502Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00458 in 1,613,960 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_001127715.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00368 AC: 560AN: 152210Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00395 AC: 991AN: 251122Hom.: 5 AF XY: 0.00411 AC XY: 558AN XY: 135726
GnomAD4 exome AF: 0.00468 AC: 6837AN: 1461632Hom.: 17 Cov.: 31 AF XY: 0.00461 AC XY: 3350AN XY: 727124
GnomAD4 genome AF: 0.00368 AC: 560AN: 152328Hom.: 3 Cov.: 32 AF XY: 0.00375 AC XY: 279AN XY: 74482
ClinVar
Submissions by phenotype
not provided Benign:1
- -
STXBP5-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at