22-23834143-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PM5PP2PP3_Moderate
The NM_003073.5(SMARCB1):āc.1121G>Cā(p.Arg374Pro) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R374Q) has been classified as Pathogenic.
Frequency
Consequence
NM_003073.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMARCB1 | NM_003073.5 | c.1121G>C | p.Arg374Pro | missense_variant, splice_region_variant | 9/9 | ENST00000644036.2 | NP_003064.2 | |
SMARCB1 | NM_001362877.2 | c.1175G>C | p.Arg392Pro | missense_variant, splice_region_variant | 9/9 | NP_001349806.1 | ||
SMARCB1 | NM_001317946.2 | c.1148G>C | p.Arg383Pro | missense_variant, splice_region_variant | 9/9 | NP_001304875.1 | ||
SMARCB1 | NM_001007468.3 | c.1094G>C | p.Arg365Pro | missense_variant, splice_region_variant | 9/9 | NP_001007469.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMARCB1 | ENST00000644036.2 | c.1121G>C | p.Arg374Pro | missense_variant, splice_region_variant | 9/9 | NM_003073.5 | ENSP00000494049.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1438642Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 713658
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.