rs11016076
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002417.5(MKI67):c.1491G>T(p.Glu497Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,613,788 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. 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MKI67 | NM_002417.5 | c.1491G>T | p.Glu497Asp | missense_variant | 8/15 | ENST00000368654.8 | NP_002408.3 | |
MKI67 | NM_001145966.2 | c.411G>T | p.Glu137Asp | missense_variant | 7/14 | NP_001139438.1 | ||
MKI67 | XM_011539818.3 | c.459G>T | p.Glu153Asp | missense_variant | 5/12 | XP_011538120.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MKI67 | ENST00000368654.8 | c.1491G>T | p.Glu497Asp | missense_variant | 8/15 | 2 | NM_002417.5 | ENSP00000357643 | P2 | |
MKI67 | ENST00000368653.7 | c.411G>T | p.Glu137Asp | missense_variant | 7/14 | 2 | ENSP00000357642 | A2 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152074Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251266Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135812
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461596Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727116
GnomAD4 genome AF: 0.000112 AC: 17AN: 152192Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74416
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at