rs510579
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_144980.4(C6orf118):āc.768T>Gā(p.Ile256Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.375 in 1,607,492 control chromosomes in the GnomAD database, including 121,026 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_144980.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C6orf118 | NM_144980.4 | c.768T>G | p.Ile256Met | missense_variant | 3/9 | ENST00000230301.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C6orf118 | ENST00000230301.9 | c.768T>G | p.Ile256Met | missense_variant | 3/9 | 1 | NM_144980.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.477 AC: 72513AN: 151906Hom.: 19695 Cov.: 32
GnomAD3 exomes AF: 0.390 AC: 96856AN: 248658Hom.: 20537 AF XY: 0.383 AC XY: 51570AN XY: 134572
GnomAD4 exome AF: 0.364 AC: 530410AN: 1455468Hom.: 101276 Cov.: 34 AF XY: 0.365 AC XY: 264291AN XY: 724228
GnomAD4 genome ? AF: 0.478 AC: 72623AN: 152024Hom.: 19750 Cov.: 32 AF XY: 0.482 AC XY: 35777AN XY: 74302
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at