rs3102078
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_125431.1(LOC101929128):n.287+3629C>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.585 in 151,920 control chromosomes in the GnomAD database, including 26,486 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
NR_125431.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC101929128 | NR_125431.1 | n.287+3629C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPP1R3B-DT | ENST00000512942.8 | n.268+3618C>A | intron_variant, non_coding_transcript_variant | 1 | |||||
PPP1R3B-DT | ENST00000417333.7 | n.239+3629C>A | intron_variant, non_coding_transcript_variant | 5 | |||||
PPP1R3B-DT | ENST00000523747.1 | n.83-743C>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.585 AC: 88770AN: 151802Hom.: 26474 Cov.: 31
GnomAD4 genome ? AF: 0.585 AC: 88818AN: 151920Hom.: 26486 Cov.: 31 AF XY: 0.572 AC XY: 42503AN XY: 74246
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at