rs41266839
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007048.6(BTN3A1):c.845G>A(p.Arg282Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. 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. R282T) has been classified as Likely benign.
Frequency
Consequence
NM_007048.6 missense
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 |
---|---|---|---|---|---|---|---|
BTN3A1 | NM_007048.6 | c.845G>A | p.Arg282Lys | missense_variant | 5/10 | ENST00000289361.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BTN3A1 | ENST00000289361.11 | c.845G>A | p.Arg282Lys | missense_variant | 5/10 | 1 | NM_007048.6 | P1 | |
ENST00000707189.1 | n.1000-143525G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000707191.1 | n.1001-123043G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1447296Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 720798
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at