chr17-17992891-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_031294.4(DRC3):c.571C>T(p.Arg191Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.371 in 1,613,078 control chromosomes in the GnomAD database, including 126,421 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_031294.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DRC3 | ENST00000399187.6 | c.571C>T | p.Arg191Trp | missense_variant | 6/14 | 1 | NM_031294.4 | ENSP00000382140.1 | ||
DRC3 | ENST00000399182.5 | c.571C>T | p.Arg191Trp | missense_variant | 6/13 | 1 | ENSP00000382136.1 | |||
DRC3 | ENST00000584166.5 | c.571C>T | p.Arg191Trp | missense_variant | 7/14 | 5 | ENSP00000462661.1 | |||
DRC3 | ENST00000583171.5 | n.127C>T | non_coding_transcript_exon_variant | 1/6 | 3 | ENSP00000464101.2 |
Frequencies
GnomAD3 genomes AF: 0.402 AC: 61087AN: 151898Hom.: 13431 Cov.: 32
GnomAD3 exomes AF: 0.467 AC: 116249AN: 249176Hom.: 31332 AF XY: 0.470 AC XY: 63594AN XY: 135168
GnomAD4 exome AF: 0.368 AC: 537712AN: 1461062Hom.: 112983 Cov.: 37 AF XY: 0.378 AC XY: 274985AN XY: 726842
GnomAD4 genome AF: 0.402 AC: 61128AN: 152016Hom.: 13438 Cov.: 32 AF XY: 0.416 AC XY: 30884AN XY: 74328
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at