chr3-142821010-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013363.4(PCOLCE2):c.985G>A(p.Asp329Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000135 in 1,613,150 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000796 AC: 20AN: 251356Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135838
GnomAD4 exome AF: 0.000138 AC: 202AN: 1461024Hom.: 0 Cov.: 30 AF XY: 0.000147 AC XY: 107AN XY: 726664
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.985G>A (p.D329N) alteration is located in exon 8 (coding exon 8) of the PCOLCE2 gene. This alteration results from a G to A substitution at nucleotide position 985, causing the aspartic acid (D) at amino acid position 329 to be replaced by an asparagine (N). 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