rs6111262
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_003092.5(SNRPB2):c.-35-33C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000884 in 1,584,544 control chromosomes in the GnomAD database, including 1 homozygotes. 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_003092.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SNRPB2 | NM_003092.5 | c.-35-33C>G | intron_variant | ENST00000246071.8 | |||
SNRPB2 | NM_198220.3 | c.-35-33C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SNRPB2 | ENST00000246071.8 | c.-35-33C>G | intron_variant | 1 | NM_003092.5 | P1 | |||
SNRPB2 | ENST00000377943.9 | c.-35-33C>G | intron_variant | 1 | P1 | ||||
SNRPB2 | ENST00000478522.1 | n.137-33C>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152046Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000908 AC: 13AN: 1432380Hom.: 1 Cov.: 27 AF XY: 0.0000126 AC XY: 9AN XY: 713718
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152164Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74374
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.