17-2299731-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_017575.5(SMG6):āc.1022A>Cā(p.Asn341Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.348 in 1,613,934 control chromosomes in the GnomAD database, including 103,675 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_017575.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.288 AC: 43713AN: 151942Hom.: 7734 Cov.: 32
GnomAD3 exomes AF: 0.336 AC: 84443AN: 251484Hom.: 15715 AF XY: 0.334 AC XY: 45419AN XY: 135916
GnomAD4 exome AF: 0.355 AC: 518359AN: 1461874Hom.: 95935 Cov.: 70 AF XY: 0.351 AC XY: 255232AN XY: 727236
GnomAD4 genome AF: 0.288 AC: 43737AN: 152060Hom.: 7740 Cov.: 32 AF XY: 0.287 AC XY: 21363AN XY: 74334
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at