chr9-36583645-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_014791.4(MELK):c.77A>G(p.Lys26Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0059 in 1,611,680 control chromosomes in the GnomAD database, including 51 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K26T) has been classified as Uncertain significance.
Frequency
Consequence
NM_014791.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MELK | NM_014791.4 | c.77A>G | p.Lys26Arg | missense_variant | 3/18 | ENST00000298048.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MELK | ENST00000298048.7 | c.77A>G | p.Lys26Arg | missense_variant | 3/18 | 1 | NM_014791.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00511 AC: 777AN: 152112Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00509 AC: 1279AN: 251116Hom.: 10 AF XY: 0.00511 AC XY: 693AN XY: 135748
GnomAD4 exome AF: 0.00598 AC: 8727AN: 1459450Hom.: 47 Cov.: 29 AF XY: 0.00594 AC XY: 4313AN XY: 726048
GnomAD4 genome ? AF: 0.00510 AC: 777AN: 152230Hom.: 4 Cov.: 32 AF XY: 0.00500 AC XY: 372AN XY: 74430
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 08, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at