rs2228617
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_005631.5(SMO):c.1164G>A(p.Gly388=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G388G) has been classified as Benign.
Frequency
Consequence
NM_005631.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMO | NM_005631.5 | c.1164G>A | p.Gly388= | synonymous_variant | 6/12 | ENST00000249373.8 | |
SMO | XM_047420759.1 | c.774G>A | p.Gly258= | synonymous_variant | 7/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMO | ENST00000249373.8 | c.1164G>A | p.Gly388= | synonymous_variant | 6/12 | 1 | NM_005631.5 | P1 | |
SMO | ENST00000495998.1 | n.109G>A | non_coding_transcript_exon_variant | 2/3 | 3 | ||||
SMO | ENST00000462420.2 | c.246G>A | p.Gly82= | synonymous_variant, NMD_transcript_variant | 2/5 | 4 | |||
SMO | ENST00000655644.1 | c.*1028G>A | 3_prime_UTR_variant, NMD_transcript_variant | 7/12 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 57
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at