rs2759
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_000250.2(MPO):āc.2149A>Gā(p.Ile717Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0242 in 1,614,018 control chromosomes in the GnomAD database, including 546 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in Lovd as Benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000250.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MPO | NM_000250.2 | c.2149A>G | p.Ile717Val | missense_variant | 12/12 | ENST00000225275.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MPO | ENST00000225275.4 | c.2149A>G | p.Ile717Val | missense_variant | 12/12 | 1 | NM_000250.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0211 AC: 3210AN: 152060Hom.: 42 Cov.: 32
GnomAD3 exomes AF: 0.0237 AC: 5942AN: 251204Hom.: 85 AF XY: 0.0240 AC XY: 3259AN XY: 135862
GnomAD4 exome AF: 0.0245 AC: 35887AN: 1461840Hom.: 504 Cov.: 30 AF XY: 0.0245 AC XY: 17817AN XY: 727222
GnomAD4 genome ? AF: 0.0211 AC: 3211AN: 152178Hom.: 42 Cov.: 32 AF XY: 0.0210 AC XY: 1564AN XY: 74398
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at