1-66833617-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_024763.5(DNAI4):c.1981G>A(p.Ala661Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000112 in 1,613,218 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024763.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAI4 | ENST00000371026.8 | c.1981G>A | p.Ala661Thr | missense_variant | Exon 13 of 17 | 1 | NM_024763.5 | ENSP00000360065.3 | ||
DNAI4 | ENST00000464352.6 | c.1279G>A | p.Ala427Thr | missense_variant | Exon 9 of 12 | 2 | ENSP00000433682.1 | |||
DNAI4 | ENST00000491297.6 | n.*1923G>A | non_coding_transcript_exon_variant | Exon 10 of 14 | 2 | ENSP00000435836.1 | ||||
DNAI4 | ENST00000491297.6 | n.*1923G>A | 3_prime_UTR_variant | Exon 10 of 14 | 2 | ENSP00000435836.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152052Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250708Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135502
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461166Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726864
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152052Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74254
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1981G>A (p.A661T) alteration is located in exon 13 (coding exon 13) of the WDR78 gene. This alteration results from a G to A substitution at nucleotide position 1981, causing the alanine (A) at amino acid position 661 to be replaced by a threonine (T). 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