rs5997872
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_134269.3(SMTN):c.1676C>T(p.Ala559Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.165 in 1,613,820 control chromosomes in the GnomAD database, including 23,040 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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_134269.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.159 AC: 24237AN: 152138Hom.: 2060 Cov.: 33
GnomAD3 exomes AF: 0.143 AC: 36028AN: 251244Hom.: 2885 AF XY: 0.145 AC XY: 19667AN XY: 135820
GnomAD4 exome AF: 0.166 AC: 242315AN: 1461564Hom.: 20981 Cov.: 35 AF XY: 0.165 AC XY: 120255AN XY: 727088
GnomAD4 genome AF: 0.159 AC: 24272AN: 152256Hom.: 2059 Cov.: 33 AF XY: 0.156 AC XY: 11579AN XY: 74456
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at