1-243308164-G-T
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The NM_006642.5(SDCCAG8):c.916G>T(p.Glu306*) variant causes a stop gained change. The variant allele was found at a frequency of 0.00000205 in 1,461,798 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_006642.5 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SDCCAG8 | NM_006642.5 | c.916G>T | p.Glu306* | stop_gained | Exon 8 of 18 | ENST00000366541.8 | NP_006633.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SDCCAG8 | ENST00000366541.8 | c.916G>T | p.Glu306* | stop_gained | Exon 8 of 18 | 1 | NM_006642.5 | ENSP00000355499.3 | ||
SDCCAG8 | ENST00000435549.1 | c.256G>T | p.Glu86* | stop_gained | Exon 3 of 11 | 1 | ENSP00000410200.1 | |||
SDCCAG8 | ENST00000463012.1 | n.276G>T | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461798Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 727192
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.