rs10491178
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_001377321.1(ABCA10):c.3964C>T(p.Arg1322Ter) variant causes a stop gained, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0614 in 1,611,562 control chromosomes in the GnomAD database, including 3,739 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001377321.1 stop_gained, splice_region
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCA10 | NM_001377321.1 | c.3964C>T | p.Arg1322Ter | stop_gained, splice_region_variant | 32/39 | ENST00000690296.1 | |
ABCA10 | NM_080282.4 | c.3964C>T | p.Arg1322Ter | stop_gained, splice_region_variant | 33/40 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCA10 | ENST00000690296.1 | c.3964C>T | p.Arg1322Ter | stop_gained, splice_region_variant | 32/39 | NM_001377321.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0729 AC: 11075AN: 151950Hom.: 537 Cov.: 32
GnomAD3 exomes AF: 0.0811 AC: 20208AN: 249050Hom.: 1084 AF XY: 0.0760 AC XY: 10226AN XY: 134520
GnomAD4 exome AF: 0.0602 AC: 87900AN: 1459494Hom.: 3202 Cov.: 30 AF XY: 0.0597 AC XY: 43357AN XY: 725910
GnomAD4 genome ? AF: 0.0730 AC: 11095AN: 152068Hom.: 537 Cov.: 32 AF XY: 0.0768 AC XY: 5708AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at