NM_018938.4:c.638C>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018938.4(PCDHB4):c.638C>G(p.Ala213Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000106 in 1,614,076 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018938.4 missense
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: 0.0000854 AC: 13AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251470Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135906
GnomAD4 exome AF: 0.000108 AC: 158AN: 1461878Hom.: 0 Cov.: 34 AF XY: 0.000109 AC XY: 79AN XY: 727238
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.638C>G (p.A213G) alteration is located in exon 1 (coding exon 1) of the PCDHB4 gene. This alteration results from a C to G substitution at nucleotide position 638, causing the alanine (A) at amino acid position 213 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at