1-151341903-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001025603.2(RFX5):c.*283A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.764 in 602,896 control chromosomes in the GnomAD database, including 177,146 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001025603.2 3_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RFX5 | ENST00000452671 | c.*283A>G | 3_prime_UTR_variant | Exon 11 of 11 | 1 | NM_001025603.2 | ENSP00000389130.2 | |||
RFX5 | ENST00000290524 | c.*283A>G | 3_prime_UTR_variant | Exon 11 of 11 | 1 | ENSP00000290524.4 | ||||
RFX5 | ENST00000368870 | c.*283A>G | 3_prime_UTR_variant | Exon 11 of 11 | 5 | ENSP00000357864.2 | ||||
ENSG00000224645 | ENST00000422153.1 | n.295T>C | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.784 AC: 119050AN: 151922Hom.: 46919 Cov.: 31
GnomAD4 exome AF: 0.757 AC: 341414AN: 450856Hom.: 130177 Cov.: 3 AF XY: 0.757 AC XY: 185442AN XY: 244830
GnomAD4 genome AF: 0.784 AC: 119158AN: 152040Hom.: 46969 Cov.: 31 AF XY: 0.777 AC XY: 57704AN XY: 74300
ClinVar
Submissions by phenotype
not provided Benign:1
- -
MHC class II deficiency Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at