rs759100306
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_031482.5(ATG10):āc.437A>Gā(p.Asp146Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000559 in 1,608,646 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_031482.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000148 AC: 37AN: 250232Hom.: 0 AF XY: 0.000237 AC XY: 32AN XY: 135250
GnomAD4 exome AF: 0.0000570 AC: 83AN: 1456548Hom.: 0 Cov.: 28 AF XY: 0.0000786 AC XY: 57AN XY: 725030
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74300
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.437A>G (p.D146G) alteration is located in exon 6 (coding exon 4) of the ATG10 gene. This alteration results from a A to G substitution at nucleotide position 437, causing the aspartic acid (D) at amino acid position 146 to be replaced by a glycine (G). 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