rs41271273
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001198934.2(ABCC10):c.368C>A(p.Ala123Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,480 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001198934.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABCC10 | NM_001198934.2 | c.368C>A | p.Ala123Glu | missense_variant | 3/22 | ENST00000372530.9 | NP_001185863.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCC10 | ENST00000372530.9 | c.368C>A | p.Ala123Glu | missense_variant | 3/22 | 2 | NM_001198934.2 | ENSP00000361608 | P2 | |
ABCC10 | ENST00000244533.7 | c.239C>A | p.Ala80Glu | missense_variant | 1/20 | 1 | ENSP00000244533 | A2 | ||
ABCC10 | ENST00000372515.8 | c.-78-887C>A | intron_variant | 5 | ENSP00000361593 | |||||
ABCC10 | ENST00000443426.2 | n.113-887C>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251048Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135716
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461480Hom.: 0 Cov.: 87 AF XY: 0.00 AC XY: 0AN XY: 727044
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at