10-99702616-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_020354.5(ENTPD7):c.1526G>A(p.Arg509Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000366 in 1,613,552 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020354.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
ENTPD7 | ENST00000370489.5 | c.1526G>A | p.Arg509Gln | missense_variant | Exon 12 of 13 | 1 | NM_020354.5 | ENSP00000359520.4 | ||
ENSG00000285932 | ENST00000649102.1 | n.*461-10932C>T | intron_variant | Intron 8 of 12 | ENSP00000497114.1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152158Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000759 AC: 19AN: 250202Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135250
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461394Hom.: 1 Cov.: 31 AF XY: 0.0000523 AC XY: 38AN XY: 726958
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152158Hom.: 1 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1526G>A (p.R509Q) alteration is located in exon 12 (coding exon 11) of the ENTPD7 gene. This alteration results from a G to A substitution at nucleotide position 1526, causing the arginine (R) at amino acid position 509 to be replaced by a glutamine (Q). 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