17-78358987-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003955.5(SOCS3):c.109G>A(p.Ala37Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003955.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SOCS3 | NM_003955.5 | c.109G>A | p.Ala37Thr | missense_variant | Exon 2 of 2 | ENST00000330871.3 | NP_003946.3 | |
SOCS3 | NM_001378932.1 | c.109G>A | p.Ala37Thr | missense_variant | Exon 2 of 2 | NP_001365861.1 | ||
SOCS3 | NM_001378933.1 | c.109G>A | p.Ala37Thr | missense_variant | Exon 2 of 2 | NP_001365862.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1424790Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 705080
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.109G>A (p.A37T) alteration is located in exon 2 (coding exon 1) of the SOCS3 gene. This alteration results from a G to A substitution at nucleotide position 109, causing the alanine (A) at amino acid position 37 to be replaced by a threonine (T). 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