rs283401
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_169269.1(BAGE2):n.360-19311T>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 0.0000209 in 143,360 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_169269.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BAGE2 | NR_169269.1 | n.360-19311T>A | intron_variant, non_coding_transcript_variant | ||||
BAGE2 | NR_169270.1 | n.360-19311T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000470054.5 | n.325-19311T>A | intron_variant, non_coding_transcript_variant | 1 | ||||||
ENST00000474011.5 | n.380-16604T>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000209 AC: 3AN: 143360Hom.: 0 Cov.: 42
GnomAD4 genome ? AF: 0.0000209 AC: 3AN: 143360Hom.: 0 Cov.: 42 AF XY: 0.0000143 AC XY: 1AN XY: 69854
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at