16-1079161-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001172560.3(SSTR5):c.293C>T(p.Thr98Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,612,514 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. T98T) has been classified as Likely benign.
Frequency
Consequence
NM_001172560.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SSTR5 | NM_001172560.3 | c.293C>T | p.Thr98Met | missense_variant | 2/2 | ENST00000689027.1 | |
SSTR5 | NM_001053.4 | c.293C>T | p.Thr98Met | missense_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SSTR5 | ENST00000689027.1 | c.293C>T | p.Thr98Met | missense_variant | 2/2 | NM_001172560.3 | P1 | ||
SSTR5 | ENST00000293897.7 | c.293C>T | p.Thr98Met | missense_variant | 1/1 | P1 | |||
SSTR5 | ENST00000711615.1 | c.293C>T | p.Thr98Met | missense_variant | 2/2 | P1 | |||
SSTR5 | ENST00000711616.1 | c.293C>T | p.Thr98Met | missense_variant | 1/2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152268Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249524Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135546
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1460246Hom.: 0 Cov.: 30 AF XY: 0.00000826 AC XY: 6AN XY: 726426
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152268Hom.: 0 Cov.: 34 AF XY: 0.0000538 AC XY: 4AN XY: 74386
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | research | HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | Apr 30, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at