NM_031921.6:c.200A>G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_031921.6(ATAD3B):c.200A>G(p.His67Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000172 in 1,165,404 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031921.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ATAD3B | ENST00000673477.1 | c.200A>G | p.His67Arg | missense_variant | Exon 1 of 16 | NM_031921.6 | ENSP00000500094.1 | |||
ATAD3B | ENST00000308647.8 | c.200A>G | p.His67Arg | missense_variant | Exon 1 of 14 | 1 | ENSP00000311766.8 |
Frequencies
GnomAD3 genomes AF: 0.00000749 AC: 1AN: 133560Hom.: 0 Cov.: 24
GnomAD4 exome AF: 9.69e-7 AC: 1AN: 1031844Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 489110
GnomAD4 genome AF: 0.00000749 AC: 1AN: 133560Hom.: 0 Cov.: 24 AF XY: 0.0000155 AC XY: 1AN XY: 64504
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.200A>G (p.H67R) alteration is located in exon 1 (coding exon 1) of the ATAD3B gene. This alteration results from a A to G substitution at nucleotide position 200, causing the histidine (H) at amino acid position 67 to be replaced by an arginine (R). 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