10-99685842-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020354.5(ENTPD7):āc.599T>Gā(p.Phe200Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,613,868 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F200S) has been classified as Uncertain significance.
Frequency
Consequence
NM_020354.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ENTPD7 | NM_020354.5 | c.599T>G | p.Phe200Cys | missense_variant | Exon 6 of 13 | ENST00000370489.5 | NP_065087.1 | |
ENTPD7 | NM_001349962.2 | c.605T>G | p.Phe202Cys | missense_variant | Exon 7 of 14 | NP_001336891.1 | ||
ENTPD7 | NM_001349963.2 | c.599T>G | p.Phe200Cys | missense_variant | Exon 6 of 13 | NP_001336892.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENTPD7 | ENST00000370489.5 | c.599T>G | p.Phe200Cys | missense_variant | Exon 6 of 13 | 1 | NM_020354.5 | ENSP00000359520.4 | ||
ENSG00000285932 | ENST00000649102.1 | n.*539+5764A>C | intron_variant | Intron 9 of 12 | ENSP00000497114.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152054Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461814Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727218
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152054Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74272
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at