8-123328575-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_014109.4(ATAD2):c.3483G>A(p.Gln1161Gln) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000146 in 1,365,878 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_014109.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATAD2 | NM_014109.4 | c.3483G>A | p.Gln1161Gln | synonymous_variant | Exon 25 of 28 | ENST00000287394.10 | NP_054828.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000215 AC: 4AN: 185734Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 100554
GnomAD4 exome AF: 0.00000146 AC: 2AN: 1365878Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 671032
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at