NM_001393797.1:c.3761G>A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001393797.1(ABCC12):c.3761G>A(p.Gly1254Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000427 in 1,614,044 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABCC12 | NM_001393797.1 | c.3761G>A | p.Gly1254Glu | missense_variant | Exon 29 of 31 | ENST00000311303.8 | NP_001380726.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCC12 | ENST00000311303.8 | c.3761G>A | p.Gly1254Glu | missense_variant | Exon 29 of 31 | 1 | NM_001393797.1 | ENSP00000311030.4 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251468Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135902
GnomAD4 exome AF: 0.0000458 AC: 67AN: 1461878Hom.: 0 Cov.: 30 AF XY: 0.0000536 AC XY: 39AN XY: 727238
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3761G>A (p.G1254E) alteration is located in exon 27 (coding exon 27) of the ABCC12 gene. This alteration results from a G to A substitution at nucleotide position 3761, causing the glycine (G) at amino acid position 1254 to be replaced by a glutamic acid (E). 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