chr6-43432503-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001198934.2(ABCC10):āc.523C>Gā(p.Leu175Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000434 in 1,612,090 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001198934.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC10 | NM_001198934.2 | c.523C>G | p.Leu175Val | missense_variant | 3/22 | ENST00000372530.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC10 | ENST00000372530.9 | c.523C>G | p.Leu175Val | missense_variant | 3/22 | 2 | NM_001198934.2 | P2 | |
ABCC10 | ENST00000244533.7 | c.394C>G | p.Leu132Val | missense_variant | 1/20 | 1 | A2 | ||
ABCC10 | ENST00000372515.8 | c.-78-732C>G | intron_variant | 5 | |||||
ABCC10 | ENST00000443426.2 | n.113-732C>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152260Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249496Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135112
GnomAD4 exome AF: 0.0000459 AC: 67AN: 1459830Hom.: 0 Cov.: 87 AF XY: 0.0000482 AC XY: 35AN XY: 726256
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152260Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74394
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 30, 2024 | The c.523C>G (p.L175V) alteration is located in exon 3 (coding exon 2) of the ABCC10 gene. This alteration results from a C to G substitution at nucleotide position 523, causing the leucine (L) at amino acid position 175 to be replaced by a valine (V). 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