chr6-83130197-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_015018.4(DOP1A):c.2416G>A(p.Val806Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,613,974 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015018.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOP1A | NM_015018.4 | c.2416G>A | p.Val806Ile | missense_variant | 17/39 | ENST00000349129.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOP1A | ENST00000349129.7 | c.2416G>A | p.Val806Ile | missense_variant | 17/39 | 1 | NM_015018.4 | P4 | |
DOP1A | ENST00000369739.7 | c.2389G>A | p.Val797Ile | missense_variant | 16/39 | 1 | A1 | ||
DOP1A | ENST00000237163.9 | c.2389G>A | p.Val797Ile | missense_variant | 17/40 | 5 | A1 | ||
DOP1A | ENST00000493541.1 | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250792Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135502
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461778Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727186
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at