chr20-23035616-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001052.4(SSTR4):āc.133G>Cā(p.Ala45Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000737 in 1,545,764 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001052.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SSTR4 | NM_001052.4 | c.133G>C | p.Ala45Pro | missense_variant | 1/1 | ENST00000255008.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SSTR4 | ENST00000255008.5 | c.133G>C | p.Ala45Pro | missense_variant | 1/1 | NM_001052.4 | P1 | ||
ENST00000440921.6 | n.827-2607G>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000132 AC: 20AN: 152072Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000768 AC: 14AN: 182338Hom.: 0 AF XY: 0.000102 AC XY: 10AN XY: 98216
GnomAD4 exome AF: 0.0000674 AC: 94AN: 1393692Hom.: 0 Cov.: 30 AF XY: 0.0000741 AC XY: 51AN XY: 688570
GnomAD4 genome AF: 0.000132 AC: 20AN: 152072Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 22, 2023 | The c.133G>C (p.A45P) alteration is located in exon 1 (coding exon 1) of the SSTR4 gene. This alteration results from a G to C substitution at nucleotide position 133, causing the alanine (A) at amino acid position 45 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at