13-36879678-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001127217.3(SMAD9):āc.12C>Gā(p.Thr4Thr) variant causes a synonymous change. The variant allele was found at a frequency of 0.000000684 in 1,461,814 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_001127217.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMAD9 | ENST00000379826.5 | c.12C>G | p.Thr4Thr | synonymous_variant | Exon 2 of 7 | 5 | NM_001127217.3 | ENSP00000369154.4 | ||
SMAD9 | ENST00000350148.10 | c.12C>G | p.Thr4Thr | synonymous_variant | Exon 2 of 6 | 1 | ENSP00000239885.6 | |||
SMAD9 | ENST00000399275.7 | n.12C>G | non_coding_transcript_exon_variant | Exon 1 of 6 | 1 | ENSP00000382216.3 | ||||
SMAD9 | ENST00000483941.2 | n.451C>G | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461814Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727206
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.