rs1554815737
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP6_Very_Strong
The ENST00000395445.6(PCDH15):c.4832_4833delinsCC(p.Glu1611Ala) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Benignin ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E1611D) has been classified as Likely benign.
Frequency
Consequence
ENST00000395445.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PCDH15 | NM_001384140.1 | c.4671+1344_4671+1345delinsCC | intron_variant | ENST00000644397.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PCDH15 | ENST00000644397.2 | c.4671+1344_4671+1345delinsCC | intron_variant | NM_001384140.1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | May 10, 2016 | c.4853_4854delinsCC (p.Glu1618Ala) in exon 37A of PCDH15: This variant is not ex pected to have clinical significance because it has been identified in 1.46% (24 1/16508) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org). - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 05, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at