chr16-81207495-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000525539.5(PKD1L2):āc.901C>Gā(p.Pro301Ala) variant causes a missense change. The variant allele was found at a frequency of 0.473 in 1,597,098 control chromosomes in the GnomAD database, including 186,435 homozygotes. In-silico tool predicts 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. P301L) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000525539.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PKD1L2 | NR_126532.3 | n.925C>G | non_coding_transcript_exon_variant | 5/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PKD1L2 | ENST00000525539.5 | c.901C>G | p.Pro301Ala | missense_variant | 5/43 | 1 |
Frequencies
GnomAD3 genomes AF: 0.410 AC: 62161AN: 151788Hom.: 14259 Cov.: 31
GnomAD3 exomes AF: 0.488 AC: 116523AN: 238748Hom.: 30771 AF XY: 0.484 AC XY: 62732AN XY: 129500
GnomAD4 exome AF: 0.480 AC: 693588AN: 1445190Hom.: 172168 Cov.: 39 AF XY: 0.479 AC XY: 344243AN XY: 717946
GnomAD4 genome AF: 0.410 AC: 62208AN: 151908Hom.: 14267 Cov.: 31 AF XY: 0.416 AC XY: 30916AN XY: 74232
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at