chr6-31111487-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014070.3(C6orf15):c.872G>A(p.Gly291Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0779 in 1,611,930 control chromosomes in the GnomAD database, including 6,323 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 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_014070.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C6orf15 | NM_014070.3 | c.872G>A | p.Gly291Asp | missense_variant | 2/2 | ENST00000259870.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C6orf15 | ENST00000259870.4 | c.872G>A | p.Gly291Asp | missense_variant | 2/2 | 1 | NM_014070.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0667 AC: 10138AN: 152004Hom.: 505 Cov.: 33
GnomAD3 exomes AF: 0.100 AC: 24616AN: 245610Hom.: 1639 AF XY: 0.103 AC XY: 13764AN XY: 133858
GnomAD4 exome AF: 0.0791 AC: 115512AN: 1459808Hom.: 5822 Cov.: 68 AF XY: 0.0821 AC XY: 59600AN XY: 726114
GnomAD4 genome ? AF: 0.0665 AC: 10123AN: 152122Hom.: 501 Cov.: 33 AF XY: 0.0693 AC XY: 5152AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at