3-196229956-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_152672.6(SLC51A):āc.675T>Cā(p.Leu225Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.458 in 1,612,724 control chromosomes in the GnomAD database, including 173,328 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_152672.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.436 AC: 66282AN: 151932Hom.: 15074 Cov.: 32
GnomAD3 exomes AF: 0.483 AC: 120527AN: 249796Hom.: 30584 AF XY: 0.480 AC XY: 64819AN XY: 135118
GnomAD4 exome AF: 0.460 AC: 671722AN: 1460674Hom.: 158242 Cov.: 50 AF XY: 0.460 AC XY: 334046AN XY: 726704
GnomAD4 genome AF: 0.436 AC: 66329AN: 152050Hom.: 15086 Cov.: 32 AF XY: 0.439 AC XY: 32590AN XY: 74308
ClinVar
Submissions by phenotype
SLC51A-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