rs762292786
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001316764.3(C2orf81):āc.1231G>Cā(p.Gly411Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000717 in 1,394,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G411S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001316764.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
C2orf81 | NM_001316764.3 | c.1231G>C | p.Gly411Arg | missense_variant | Exon 3 of 3 | ENST00000684111.1 | NP_001303693.1 | |
C2orf81 | NM_001145054.2 | c.1150G>C | p.Gly384Arg | missense_variant | Exon 4 of 4 | NP_001138526.1 | ||
C2orf81 | NM_001316765.2 | c.1084G>C | p.Gly362Arg | missense_variant | Exon 3 of 3 | NP_001303694.1 | ||
C2orf81 | NM_001316766.2 | c.946G>C | p.Gly316Arg | missense_variant | Exon 2 of 2 | NP_001303695.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
C2orf81 | ENST00000684111.1 | c.1231G>C | p.Gly411Arg | missense_variant | Exon 3 of 3 | NM_001316764.3 | ENSP00000507340.1 | |||
ENSG00000159239 | ENST00000517883.2 | n.946G>C | non_coding_transcript_exon_variant | Exon 2 of 5 | 5 | ENSP00000431103.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000679 AC: 1AN: 147232Hom.: 0 AF XY: 0.0000127 AC XY: 1AN XY: 78768
GnomAD4 exome AF: 7.17e-7 AC: 1AN: 1394018Hom.: 0 Cov.: 32 AF XY: 0.00000146 AC XY: 1AN XY: 687130
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at