chr16-48083926-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001393797.1(ABCC12):c.3976G>A(p.Val1326Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000822 in 1,460,338 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001393797.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABCC12 | NM_001393797.1 | c.3976G>A | p.Val1326Ile | missense_variant | Exon 30 of 31 | ENST00000311303.8 | NP_001380726.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCC12 | ENST00000311303.8 | c.3976G>A | p.Val1326Ile | missense_variant | Exon 30 of 31 | 1 | NM_001393797.1 | ENSP00000311030.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249790Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 135004
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1460338Hom.: 1 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 726454
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3976G>A (p.V1326I) alteration is located in exon 28 (coding exon 28) of the ABCC12 gene. This alteration results from a G to A substitution at nucleotide position 3976, causing the valine (V) at amino acid position 1326 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