rs376768304
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013363.4(PCOLCE2):c.427G>A(p.Ala143Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000979 in 1,614,094 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000217 AC: 33AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000875 AC: 22AN: 251398Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135870
GnomAD4 exome AF: 0.0000848 AC: 124AN: 1461794Hom.: 0 Cov.: 32 AF XY: 0.0000701 AC XY: 51AN XY: 727194
GnomAD4 genome AF: 0.000223 AC: 34AN: 152300Hom.: 0 Cov.: 33 AF XY: 0.000215 AC XY: 16AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.427G>A (p.A143T) alteration is located in exon 3 (coding exon 3) of the PCOLCE2 gene. This alteration results from a G to A substitution at nucleotide position 427, causing the alanine (A) at amino acid position 143 to be replaced by a threonine (T). 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