10-87862106-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001126049.2(KLLN):āc.382C>Gā(p.Arg128Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00409 in 1,541,338 control chromosomes in the GnomAD database, including 54 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001126049.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00319 AC: 486AN: 152162Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00639 AC: 937AN: 146600Hom.: 6 AF XY: 0.00749 AC XY: 582AN XY: 77678
GnomAD4 exome AF: 0.00418 AC: 5813AN: 1389058Hom.: 50 Cov.: 31 AF XY: 0.00466 AC XY: 3190AN XY: 684200
GnomAD4 genome AF: 0.00318 AC: 485AN: 152280Hom.: 4 Cov.: 32 AF XY: 0.00317 AC XY: 236AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:3
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KLLN: BP4, BS1, BS2 -
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not specified Benign:2
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KLLN-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at