rs369195898
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004933.3(CDH15):āc.1849C>Gā(p.Leu617Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000321 in 1,559,536 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L617L) has been classified as Likely benign.
Frequency
Consequence
NM_004933.3 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 |
---|---|---|---|---|---|---|---|
CDH15 | NM_004933.3 | c.1849C>G | p.Leu617Val | missense_variant | 11/14 | ENST00000289746.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH15 | ENST00000289746.3 | c.1849C>G | p.Leu617Val | missense_variant | 11/14 | 1 | NM_004933.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152034Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000611 AC: 1AN: 163796Hom.: 0 AF XY: 0.0000110 AC XY: 1AN XY: 90874
GnomAD4 exome AF: 0.00000284 AC: 4AN: 1407502Hom.: 0 Cov.: 36 AF XY: 0.00000287 AC XY: 2AN XY: 697332
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152034Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74262
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at