chr11-75277415-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_004041.5(ARRB1):c.652G>A(p.Val218Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,614,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004041.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARRB1 | ENST00000420843.7 | c.652G>A | p.Val218Ile | missense_variant | Exon 9 of 16 | 1 | NM_004041.5 | ENSP00000409581.2 | ||
ARRB1 | ENST00000360025.7 | c.652G>A | p.Val218Ile | missense_variant | Exon 9 of 15 | 1 | ENSP00000353124.3 | |||
ARRB1 | ENST00000532525.1 | c.637G>A | p.Val213Ile | missense_variant | Exon 9 of 11 | 5 | ENSP00000433171.1 | |||
ARRB1 | ENST00000532447.5 | c.124G>A | p.Val42Ile | missense_variant | Exon 2 of 7 | 5 | ENSP00000436530.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152216Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251478Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135912
GnomAD4 exome AF: 0.0000287 AC: 42AN: 1461864Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 727236
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152216Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.652G>A (p.V218I) alteration is located in exon 9 (coding exon 9) of the ARRB1 gene. This alteration results from a G to A substitution at nucleotide position 652, causing the valine (V) at amino acid position 218 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at