rs10082391
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002417.5(MKI67):āc.8279A>Gā(p.Asp2760Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.183 in 1,613,804 control chromosomes in the GnomAD database, including 28,237 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002417.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MKI67 | NM_002417.5 | c.8279A>G | p.Asp2760Gly | missense_variant | 13/15 | ENST00000368654.8 | |
MKI67 | NM_001145966.2 | c.7199A>G | p.Asp2400Gly | missense_variant | 12/14 | ||
MKI67 | XM_011539818.3 | c.7247A>G | p.Asp2416Gly | missense_variant | 10/12 | ||
MKI67 | XM_006717864.4 | c.5957A>G | p.Asp1986Gly | missense_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MKI67 | ENST00000368654.8 | c.8279A>G | p.Asp2760Gly | missense_variant | 13/15 | 2 | NM_002417.5 | P2 | |
MKI67 | ENST00000368653.7 | c.7199A>G | p.Asp2400Gly | missense_variant | 12/14 | 2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.216 AC: 32865AN: 151818Hom.: 3892 Cov.: 32
GnomAD3 exomes AF: 0.190 AC: 47680AN: 251194Hom.: 4829 AF XY: 0.183 AC XY: 24784AN XY: 135750
GnomAD4 exome AF: 0.179 AC: 262280AN: 1461868Hom.: 24346 Cov.: 78 AF XY: 0.177 AC XY: 129011AN XY: 727236
GnomAD4 genome ? AF: 0.216 AC: 32881AN: 151936Hom.: 3891 Cov.: 32 AF XY: 0.215 AC XY: 15941AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at