rs556470157
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005902.4(SMAD3):c.-115C>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000665 in 150,468 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_005902.4 5_prime_UTR
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMAD3 | NM_005902.4 | c.-115C>A | 5_prime_UTR_variant | Exon 1 of 9 | ENST00000327367.9 | NP_005893.1 | ||
SMAD3 | NM_001407011.1 | c.-115C>A | 5_prime_UTR_variant | Exon 1 of 10 | NP_001393940.1 | |||
SMAD3 | NM_001407012.1 | c.-115C>A | 5_prime_UTR_variant | Exon 1 of 8 | NP_001393941.1 | |||
SMAD3 | NM_001407013.1 | c.-115C>A | 5_prime_UTR_variant | Exon 1 of 8 | NP_001393942.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMAD3 | ENST00000327367 | c.-115C>A | 5_prime_UTR_variant | Exon 1 of 9 | 1 | NM_005902.4 | ENSP00000332973.4 | |||
SMAD3 | ENST00000560424 | c.-115C>A | 5_prime_UTR_variant | Exon 1 of 10 | 3 | ENSP00000455540.2 | ||||
SMAD3 | ENST00000559460.6 | c.-110+2096C>A | intron_variant | Intron 1 of 8 | 4 | ENSP00000453082.2 |
Frequencies
GnomAD3 genomes AF: 0.00000665 AC: 1AN: 150468Hom.: 0 Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 396422Hom.: 0 Cov.: 6 AF XY: 0.00 AC XY: 0AN XY: 204344
GnomAD4 genome AF: 0.00000665 AC: 1AN: 150468Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73480
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at