rs2269371
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_002910.6(RENBP):āc.851A>Gā(p.Asp284Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0169 in 1,206,212 control chromosomes in the GnomAD database, including 700 homozygotes. There are 6,087 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002910.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RENBP | NM_002910.6 | c.851A>G | p.Asp284Gly | missense_variant | 8/11 | ENST00000393700.8 | |
RENBP | XM_017029698.2 | c.821A>G | p.Asp274Gly | missense_variant | 8/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RENBP | ENST00000393700.8 | c.851A>G | p.Asp284Gly | missense_variant | 8/11 | 1 | NM_002910.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0475 AC: 5169AN: 108796Hom.: 253 Cov.: 20 AF XY: 0.0416 AC XY: 1295AN XY: 31136
GnomAD3 exomes AF: 0.0318 AC: 5812AN: 182935Hom.: 221 AF XY: 0.0255 AC XY: 1723AN XY: 67663
GnomAD4 exome AF: 0.0139 AC: 15230AN: 1097368Hom.: 448 Cov.: 31 AF XY: 0.0132 AC XY: 4790AN XY: 362836
GnomAD4 genome ? AF: 0.0475 AC: 5167AN: 108844Hom.: 252 Cov.: 20 AF XY: 0.0416 AC XY: 1297AN XY: 31194
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at