rs1555877286
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_003073.5(SMARCB1):c.601C>A(p.Arg201=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,818 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_003073.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMARCB1 | NM_003073.5 | c.601C>A | p.Arg201= | synonymous_variant | 5/9 | ENST00000644036.2 | |
SMARCB1 | NM_001362877.2 | c.655C>A | p.Arg219= | synonymous_variant | 5/9 | ||
SMARCB1 | NM_001317946.2 | c.628C>A | p.Arg210= | synonymous_variant | 5/9 | ||
SMARCB1 | NM_001007468.3 | c.574C>A | p.Arg192= | synonymous_variant | 5/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMARCB1 | ENST00000644036.2 | c.601C>A | p.Arg201= | synonymous_variant | 5/9 | NM_003073.5 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461818Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 727206
GnomAD4 genome ? Cov.: 34
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.