rs34947461
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001172560.3(SSTR5):c.1069G>A(p.Gly357Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00148 in 1,603,934 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 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_001172560.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00106 AC: 161AN: 152250Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00121 AC: 277AN: 229862Hom.: 0 AF XY: 0.00119 AC XY: 150AN XY: 126062
GnomAD4 exome AF: 0.00152 AC: 2205AN: 1451566Hom.: 2 Cov.: 33 AF XY: 0.00145 AC XY: 1049AN XY: 721186
GnomAD4 genome AF: 0.00106 AC: 162AN: 152368Hom.: 0 Cov.: 34 AF XY: 0.00105 AC XY: 78AN XY: 74510
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at