19-919933-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032551.5(KISS1R):c.565G>T(p.Ala189Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000212 in 1,411,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/23 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A189T) has been classified as Likely benign.
Frequency
Consequence
NM_032551.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KISS1R | NM_032551.5 | c.565G>T | p.Ala189Ser | missense_variant | 4/5 | ENST00000234371.10 | |
KISS1R | XM_047439545.1 | c.565G>T | p.Ala189Ser | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KISS1R | ENST00000234371.10 | c.565G>T | p.Ala189Ser | missense_variant | 4/5 | 1 | NM_032551.5 | P1 | |
KISS1R | ENST00000606939.2 | c.505+308G>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000603 AC: 1AN: 165870Hom.: 0 AF XY: 0.0000109 AC XY: 1AN XY: 91732
GnomAD4 exome AF: 0.00000212 AC: 3AN: 1411888Hom.: 0 Cov.: 33 AF XY: 0.00000429 AC XY: 3AN XY: 699166
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at