chr1-38911357-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017821.5(RHBDL2):c.473G>A(p.Arg158His) variant causes a missense change. The variant allele was found at a frequency of 0.0000601 in 1,613,754 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R158C) has been classified as Uncertain significance.
Frequency
Consequence
NM_017821.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RHBDL2 | NM_017821.5 | c.473G>A | p.Arg158His | missense_variant | 4/8 | ENST00000372990.6 | |
RHBDL2 | NM_001304746.2 | c.713G>A | p.Arg238His | missense_variant | 4/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RHBDL2 | ENST00000372990.6 | c.473G>A | p.Arg158His | missense_variant | 4/8 | 5 | NM_017821.5 | P1 | |
RRAGC-DT | ENST00000667635.1 | n.267+51118C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152032Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000119 AC: 30AN: 251472Hom.: 1 AF XY: 0.0000809 AC XY: 11AN XY: 135916
GnomAD4 exome AF: 0.0000520 AC: 76AN: 1461604Hom.: 1 Cov.: 30 AF XY: 0.0000454 AC XY: 33AN XY: 727130
GnomAD4 genome AF: 0.000138 AC: 21AN: 152150Hom.: 0 Cov.: 31 AF XY: 0.0000538 AC XY: 4AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at