19-3586650-G-C
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_133261.3(GIPC3):āc.381G>Cā(p.Thr127Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000236 in 1,612,748 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_133261.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GIPC3 | ENST00000644452.3 | c.381G>C | p.Thr127Thr | synonymous_variant | Exon 2 of 6 | NM_133261.3 | ENSP00000493901.2 | |||
GIPC3 | ENST00000644946.1 | c.381G>C | p.Thr127Thr | synonymous_variant | Exon 2 of 6 | ENSP00000495068.1 |
Frequencies
GnomAD3 genomes AF: 0.0000659 AC: 10AN: 151766Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250572Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135634
GnomAD4 exome AF: 0.0000199 AC: 29AN: 1460864Hom.: 0 Cov.: 40 AF XY: 0.0000206 AC XY: 15AN XY: 726676
GnomAD4 genome AF: 0.0000593 AC: 9AN: 151884Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74264
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at