10-87862096-T-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.392A>Gā(p.Asn131Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00456 in 1,535,210 control chromosomes in the GnomAD database, including 63 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/18 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: 0.00500 AC: 761AN: 152088Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00693 AC: 976AN: 140928Hom.: 5 AF XY: 0.00783 AC XY: 583AN XY: 74432
GnomAD4 exome AF: 0.00450 AC: 6228AN: 1383004Hom.: 57 Cov.: 31 AF XY: 0.00493 AC XY: 3356AN XY: 680808
GnomAD4 genome AF: 0.00503 AC: 765AN: 152206Hom.: 6 Cov.: 32 AF XY: 0.00497 AC XY: 370AN XY: 74426
ClinVar
Submissions by phenotype
not provided Benign:2
KLLN: BP4, BS1, BS2 -
- -
not specified Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at