11-14466378-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001144061.2(COPB1):c.2194G>A(p.Val732Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,613,072 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_001144061.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COPB1 | NM_001144061.2 | c.2194G>A | p.Val732Ile | missense_variant | Exon 17 of 22 | ENST00000439561.7 | NP_001137533.1 | |
COPB1 | NM_001144062.2 | c.2194G>A | p.Val732Ile | missense_variant | Exon 17 of 22 | NP_001137534.1 | ||
COPB1 | NM_016451.5 | c.2194G>A | p.Val732Ile | missense_variant | Exon 17 of 22 | NP_057535.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COPB1 | ENST00000439561.7 | c.2194G>A | p.Val732Ile | missense_variant | Exon 17 of 22 | 1 | NM_001144061.2 | ENSP00000397873.2 | ||
COPB1 | ENST00000249923.7 | c.2194G>A | p.Val732Ile | missense_variant | Exon 17 of 22 | 1 | ENSP00000249923.3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152090Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250842Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135600
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1460982Hom.: 0 Cov.: 30 AF XY: 0.0000151 AC XY: 11AN XY: 726834
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152090Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2194G>A (p.V732I) alteration is located in exon 17 (coding exon 16) of the COPB1 gene. This alteration results from a G to A substitution at nucleotide position 2194, causing the valine (V) at amino acid position 732 to be replaced by an isoleucine (I). 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