NM_001290216.3:c.35C>T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001290216.3(RARB):c.35C>T(p.Ala12Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000303 in 1,352,042 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_001290216.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RARB | ENST00000383772.9 | c.35C>T | p.Ala12Val | missense_variant | Exon 5 of 12 | 5 | ENSP00000373282.5 | |||
RARB | ENST00000686715.1 | c.35C>T | p.Ala12Val | missense_variant | Exon 5 of 12 | ENSP00000510539.1 | ||||
RARB | ENST00000687353.1 | c.35C>T | p.Ala12Val | missense_variant | Exon 6 of 13 | ENSP00000508588.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000742 AC: 17AN: 229250Hom.: 0 AF XY: 0.0000789 AC XY: 10AN XY: 126668
GnomAD4 exome AF: 0.0000333 AC: 40AN: 1199838Hom.: 0 Cov.: 30 AF XY: 0.0000370 AC XY: 22AN XY: 594988
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74356
ClinVar
Submissions by phenotype
RARB-related disorder Uncertain:1
The RARB c.35C>T variant is predicted to result in the amino acid substitution p.Ala12Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at