rs4988484
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001172560.3(SSTR5):c.155C>T(p.Ala52Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0504 in 1,604,336 control chromosomes in the GnomAD database, including 3,027 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 same amino acid change has been previously reported as Likely benignin UniProt. Synonymous variant affecting the same amino acid position (i.e. A52A) has been classified as Benign.
Frequency
Consequence
NM_001172560.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SSTR5 | NM_001172560.3 | c.155C>T | p.Ala52Val | missense_variant | 2/2 | ENST00000689027.1 | |
SSTR5 | NM_001053.4 | c.155C>T | p.Ala52Val | missense_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SSTR5 | ENST00000689027.1 | c.155C>T | p.Ala52Val | missense_variant | 2/2 | NM_001172560.3 | P1 | ||
SSTR5 | ENST00000293897.7 | c.155C>T | p.Ala52Val | missense_variant | 1/1 | P1 | |||
SSTR5 | ENST00000711615.1 | c.155C>T | p.Ala52Val | missense_variant | 2/2 | P1 | |||
SSTR5 | ENST00000711616.1 | c.155C>T | p.Ala52Val | missense_variant | 1/2 |
Frequencies
GnomAD3 genomes ? AF: 0.0719 AC: 10945AN: 152172Hom.: 597 Cov.: 33
GnomAD3 exomes AF: 0.0553 AC: 12892AN: 233314Hom.: 613 AF XY: 0.0592 AC XY: 7526AN XY: 127076
GnomAD4 exome AF: 0.0482 AC: 69951AN: 1452048Hom.: 2431 Cov.: 30 AF XY: 0.0509 AC XY: 36772AN XY: 721918
GnomAD4 genome ? AF: 0.0719 AC: 10956AN: 152288Hom.: 596 Cov.: 33 AF XY: 0.0710 AC XY: 5286AN XY: 74466
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at