chr5-141122904-GA-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018938.4(PCDHB4):c.915delA(p.Lys305AsnfsTer12) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000079 in 1,594,630 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018938.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000179 AC: 27AN: 151038Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000686 AC: 99AN: 1443474Hom.: 0 Cov.: 34 AF XY: 0.0000696 AC XY: 50AN XY: 717982
GnomAD4 genome AF: 0.000179 AC: 27AN: 151156Hom.: 0 Cov.: 32 AF XY: 0.000149 AC XY: 11AN XY: 73848
ClinVar
Submissions by phenotype
Seizure;C3714756:Intellectual disability;C4551563:Microcephaly Pathogenic:1
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not provided Uncertain:1
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Epilepsy;C3714756:Intellectual disability;C4551563:Microcephaly Other:1
Variant interpreted as Uncertain significance and reported on 09-23-2020 by Lab or GTR ID New York Genome Center. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at