1-25301618-G-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBS2_Supporting
The NM_016124.6(RHD):āc.733G>Cā(p.Val245Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00107 in 1,380,076 control chromosomes in the GnomAD database, including 410 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as no classification for the single variant (no stars).
Frequency
Consequence
NM_016124.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RHD | NM_016124.6 | c.733G>C | p.Val245Leu | missense_variant | Exon 5 of 10 | ENST00000328664.9 | NP_057208.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000699 AC: 93AN: 133006Hom.: 25 Cov.: 21
GnomAD3 exomes AF: 0.000835 AC: 188AN: 225230Hom.: 55 AF XY: 0.000799 AC XY: 97AN XY: 121358
GnomAD4 exome AF: 0.00111 AC: 1387AN: 1246952Hom.: 385 Cov.: 30 AF XY: 0.00108 AC XY: 672AN XY: 621988
GnomAD4 genome AF: 0.000699 AC: 93AN: 133124Hom.: 25 Cov.: 21 AF XY: 0.000659 AC XY: 43AN XY: 65260
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at