chr10-54020155-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001384140.1(PCDH15):c.2751+37C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.691 in 1,578,954 control chromosomes in the GnomAD database, including 390,397 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001384140.1 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PCDH15 | ENST00000320301.11 | c.2751+37C>T | intron_variant | Intron 20 of 32 | 1 | NM_033056.4 | ENSP00000322604.6 | |||
PCDH15 | ENST00000644397.2 | c.2751+37C>T | intron_variant | Intron 20 of 37 | NM_001384140.1 | ENSP00000495195.1 |
Frequencies
GnomAD3 genomes AF: 0.593 AC: 89924AN: 151724Hom.: 29489 Cov.: 31
GnomAD3 exomes AF: 0.647 AC: 160334AN: 247826Hom.: 54923 AF XY: 0.646 AC XY: 86521AN XY: 134034
GnomAD4 exome AF: 0.701 AC: 1000658AN: 1427112Hom.: 360905 Cov.: 25 AF XY: 0.696 AC XY: 495701AN XY: 712210
GnomAD4 genome AF: 0.592 AC: 89935AN: 151842Hom.: 29492 Cov.: 31 AF XY: 0.589 AC XY: 43672AN XY: 74208
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not specified Benign:1
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Autosomal recessive nonsyndromic hearing loss 23 Benign:1
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Usher syndrome type 1F Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at