rs35105793
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_003073.5(SMARCB1):c.438A>C(p.Pro146=) 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. P146P) has been classified as Likely benign.
Frequency
Consequence
NM_003073.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMARCB1 | NM_003073.5 | c.438A>C | p.Pro146= | synonymous_variant | 4/9 | ENST00000644036.2 | |
SMARCB1 | NM_001362877.2 | c.438A>C | p.Pro146= | synonymous_variant | 4/9 | ||
SMARCB1 | NM_001317946.2 | c.411A>C | p.Pro137= | synonymous_variant | 4/9 | ||
SMARCB1 | NM_001007468.3 | c.411A>C | p.Pro137= | synonymous_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMARCB1 | ENST00000644036.2 | c.438A>C | p.Pro146= | synonymous_variant | 4/9 | NM_003073.5 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
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.