rs41281802
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_001198934.2(ABCC10):c.2680C>T(p.Leu894Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00126 in 1,606,572 control chromosomes in the GnomAD database, including 21 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L894L) has been classified as Likely benign.
Frequency
Consequence
NM_001198934.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC10 | NM_001198934.2 | c.2680C>T | p.Leu894Phe | missense_variant | 12/22 | ENST00000372530.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC10 | ENST00000372530.9 | c.2680C>T | p.Leu894Phe | missense_variant | 12/22 | 2 | NM_001198934.2 | P2 | |
ABCC10 | ENST00000244533.7 | c.2596C>T | p.Leu866Phe | missense_variant | 10/20 | 1 | A2 | ||
ABCC10 | ENST00000463024.1 | n.2408C>T | non_coding_transcript_exon_variant | 6/16 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00680 AC: 1035AN: 152262Hom.: 14 Cov.: 32
GnomAD3 exomes AF: 0.00161 AC: 391AN: 242542Hom.: 6 AF XY: 0.00118 AC XY: 155AN XY: 131242
GnomAD4 exome AF: 0.000682 AC: 992AN: 1454192Hom.: 7 Cov.: 31 AF XY: 0.000590 AC XY: 427AN XY: 723290
GnomAD4 genome ? AF: 0.00683 AC: 1040AN: 152380Hom.: 14 Cov.: 32 AF XY: 0.00620 AC XY: 462AN XY: 74512
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at