20-3259973-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001009984.3(DNAAF9):c.2929G>A(p.Val977Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000263 in 1,613,022 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001009984.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAAF9 | NM_001009984.3 | c.2929G>A | p.Val977Ile | missense_variant | Exon 32 of 37 | ENST00000252032.10 | NP_001009984.1 | |
DNAAF9 | XM_005260684.5 | c.2926G>A | p.Val976Ile | missense_variant | Exon 32 of 37 | XP_005260741.1 | ||
DNAAF9 | XM_005260687.6 | c.1174G>A | p.Val392Ile | missense_variant | Exon 13 of 18 | XP_005260744.1 | ||
DNAAF9 | XM_011529208.4 | c.1174G>A | p.Val392Ile | missense_variant | Exon 13 of 18 | XP_011527510.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000128 AC: 32AN: 249550Hom.: 0 AF XY: 0.000126 AC XY: 17AN XY: 135390
GnomAD4 exome AF: 0.000274 AC: 400AN: 1460784Hom.: 1 Cov.: 29 AF XY: 0.000264 AC XY: 192AN XY: 726832
GnomAD4 genome AF: 0.000158 AC: 24AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2929G>A (p.V977I) alteration is located in exon 32 (coding exon 32) of the C20orf194 gene. This alteration results from a G to A substitution at nucleotide position 2929, causing the valine (V) at amino acid position 977 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at