rs17554211
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_013363.4(PCOLCE2):c.874C>A(p.Pro292Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0913 in 1,592,162 control chromosomes in the GnomAD database, including 7,789 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_013363.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0721 AC: 10962AN: 152106Hom.: 561 Cov.: 32
GnomAD3 exomes AF: 0.0725 AC: 18000AN: 248438Hom.: 928 AF XY: 0.0742 AC XY: 9959AN XY: 134226
GnomAD4 exome AF: 0.0934 AC: 134432AN: 1439938Hom.: 7228 Cov.: 26 AF XY: 0.0925 AC XY: 66367AN XY: 717608
GnomAD4 genome AF: 0.0720 AC: 10961AN: 152224Hom.: 561 Cov.: 32 AF XY: 0.0684 AC XY: 5088AN XY: 74422
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at