rs4762106
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_120431.1(MSRB3-AS1):n.334+17346C>T 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 0.632 in 152,074 control chromosomes in the GnomAD database, including 34,861 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_120431.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MSRB3-AS1 | NR_120431.1 | n.334+17346C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105369806 | XR_945028.3 | n.70+2328G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MSRB3-AS1 | ENST00000537250.5 | n.160+17346C>T | intron_variant, non_coding_transcript_variant | 3 | |||||
ENST00000662138.1 | n.93+2328G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.633 AC: 96129AN: 151956Hom.: 34859 Cov.: 32
GnomAD4 genome ? AF: 0.632 AC: 96131AN: 152074Hom.: 34861 Cov.: 32 AF XY: 0.633 AC XY: 47050AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at