2-164694771-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001365672.2(COBLL1):c.2621G>C(p.Arg874Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000167 in 1,613,746 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_001365672.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COBLL1 | NM_001365672.2 | c.2621G>C | p.Arg874Thr | missense_variant | Exon 12 of 14 | ENST00000652658.2 | NP_001352601.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152058Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000800 AC: 20AN: 250130Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135266
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461570Hom.: 0 Cov.: 33 AF XY: 0.0000138 AC XY: 10AN XY: 727080
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2735G>C (p.R912T) alteration is located in exon 12 (coding exon 12) of the COBLL1 gene. This alteration results from a G to C substitution at nucleotide position 2735, causing the arginine (R) at amino acid position 912 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