chr17-7352979-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001363642.1(KCTD11):āc.154C>Gā(p.Pro52Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000599 in 1,601,546 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001363642.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCTD11 | NM_001363642.1 | c.154C>G | p.Pro52Ala | missense_variant | 1/1 | ENST00000333751.8 | |
KCTD11 | NM_001002914.3 | c.37C>G | p.Pro13Ala | missense_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCTD11 | ENST00000333751.8 | c.154C>G | p.Pro52Ala | missense_variant | 1/1 | NM_001363642.1 | |||
ENST00000572417.1 | n.276-147G>C | intron_variant, non_coding_transcript_variant | 2 | ||||||
KCTD11 | ENST00000576980.2 | c.37C>G | p.Pro13Ala | missense_variant | 1/1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152152Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000653 AC: 16AN: 244978Hom.: 0 AF XY: 0.0000827 AC XY: 11AN XY: 132992
GnomAD4 exome AF: 0.0000593 AC: 86AN: 1449394Hom.: 0 Cov.: 31 AF XY: 0.0000584 AC XY: 42AN XY: 718768
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152152Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74340
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at