rs766628438
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_138422.4(ADAT3):c.140T>A(p.Val47Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0000126 in 1,582,552 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138422.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAT3 | ENST00000329478.4 | c.140T>A | p.Val47Asp | missense_variant | Exon 2 of 2 | 1 | NM_138422.4 | ENSP00000332448.2 | ||
SCAMP4 | ENST00000316097.13 | c.-41-2792T>A | intron_variant | Intron 1 of 6 | 1 | NM_079834.4 | ENSP00000316007.7 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152246Hom.: 0 Cov.: 34 show subpopulations
GnomAD2 exomes AF: 0.00 AC: 0AN: 188614 AF XY: 0.00
GnomAD4 exome AF: 0.0000133 AC: 19AN: 1430306Hom.: 0 Cov.: 30 AF XY: 0.0000141 AC XY: 10AN XY: 709528 show subpopulations
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152246Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74380 show subpopulations
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.92T>A (p.V31D) alteration is located in exon 2 (coding exon 1) of the ADAT3 gene. This alteration results from a T to A substitution at nucleotide position 92, causing the valine (V) at amino acid position 31 to be replaced by an aspartic acid (D). 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