chr13-49534118-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_018191.4(RCBTB1):c.*4G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000363 in 1,613,156 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_018191.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RCBTB1 | ENST00000378302 | c.*4G>A | 3_prime_UTR_variant | Exon 13 of 13 | 1 | NM_018191.4 | ENSP00000367552.2 | |||
RCBTB1 | ENST00000258646 | c.*4G>A | 3_prime_UTR_variant | Exon 11 of 11 | 2 | ENSP00000258646.3 | ||||
RCBTB1 | ENST00000471984.1 | n.488G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00179 AC: 273AN: 152148Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000535 AC: 134AN: 250506Hom.: 2 AF XY: 0.000399 AC XY: 54AN XY: 135404
GnomAD4 exome AF: 0.000214 AC: 313AN: 1460890Hom.: 2 Cov.: 32 AF XY: 0.000168 AC XY: 122AN XY: 726724
GnomAD4 genome AF: 0.00179 AC: 273AN: 152266Hom.: 1 Cov.: 32 AF XY: 0.00163 AC XY: 121AN XY: 74448
ClinVar
Submissions by phenotype
RCBTB1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at