3-142848334-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_013363.4(PCOLCE2):c.331C>T(p.Arg111Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000849 in 1,614,224 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013363.4 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: 152222Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251450Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135904
GnomAD4 exome AF: 0.0000848 AC: 124AN: 1461884Hom.: 0 Cov.: 32 AF XY: 0.0000770 AC XY: 56AN XY: 727246
GnomAD4 genome AF: 0.0000853 AC: 13AN: 152340Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.331C>T (p.R111W) alteration is located in exon 3 (coding exon 3) of the PCOLCE2 gene. This alteration results from a C to T substitution at nucleotide position 331, causing the arginine (R) at amino acid position 111 to be replaced by a tryptophan (W). 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