chr5-41381971-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001005473.3(PLCXD3):c.667G>A(p.Glu223Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000018 in 1,613,312 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005473.3 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: 0.0000132 AC: 2AN: 151944Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250562Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135406
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461368Hom.: 0 Cov.: 33 AF XY: 0.0000206 AC XY: 15AN XY: 726996
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151944Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74214
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.667G>A (p.E223K) alteration is located in exon 2 (coding exon 2) of the PLCXD3 gene. This alteration results from a G to A substitution at nucleotide position 667, causing the glutamic acid (E) at amino acid position 223 to be replaced by a lysine (K). 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