chr17-70132118-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_170741.4(KCNJ16):āc.31A>Gā(p.Ile11Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0131 in 1,614,136 control chromosomes in the GnomAD database, including 2,419 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_170741.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNJ16 | NM_170741.4 | c.31A>G | p.Ile11Val | missense_variant | 4/4 | ENST00000392671.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNJ16 | ENST00000392671.6 | c.31A>G | p.Ile11Val | missense_variant | 4/4 | 2 | NM_170741.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0687 AC: 10452AN: 152130Hom.: 1245 Cov.: 32
GnomAD3 exomes AF: 0.0183 AC: 4610AN: 251306Hom.: 533 AF XY: 0.0134 AC XY: 1823AN XY: 135822
GnomAD4 exome AF: 0.00732 AC: 10699AN: 1461888Hom.: 1163 Cov.: 32 AF XY: 0.00633 AC XY: 4604AN XY: 727246
GnomAD4 genome AF: 0.0689 AC: 10496AN: 152248Hom.: 1256 Cov.: 32 AF XY: 0.0670 AC XY: 4987AN XY: 74450
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 04, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at