19-54819844-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013289.4(KIR3DL1):āc.487G>Cā(p.Asp163His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,460,508 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 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. D163N) has been classified as Likely benign.
Frequency
Consequence
NM_013289.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KIR3DL1 | ENST00000391728.8 | c.487G>C | p.Asp163His | missense_variant | Exon 4 of 9 | 1 | ENSP00000375608.4 | |||
KIR3DL1 | ENST00000326542.11 | c.487G>C | p.Asp163His | missense_variant | Exon 4 of 8 | 1 | ENSP00000326868.7 | |||
KIR3DL1 | ENST00000358178.4 | c.202G>C | p.Asp68His | missense_variant | Exon 3 of 8 | 1 | ENSP00000350901.4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460508Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 726542
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at