rs536009
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_172232.4(ABCA5):c.2494G>T(p.Ala832Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.848 in 1,607,574 control chromosomes in the GnomAD database, including 581,032 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_172232.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCA5 | NM_172232.4 | c.2494G>T | p.Ala832Ser | missense_variant | 19/39 | ENST00000392676.8 | |
ABCA5 | NM_018672.5 | c.2494G>T | p.Ala832Ser | missense_variant | 18/38 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCA5 | ENST00000392676.8 | c.2494G>T | p.Ala832Ser | missense_variant | 19/39 | 1 | NM_172232.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.793 AC: 120528AN: 151936Hom.: 48698 Cov.: 31
GnomAD3 exomes AF: 0.848 AC: 207685AN: 244946Hom.: 88729 AF XY: 0.855 AC XY: 113208AN XY: 132346
GnomAD4 exome AF: 0.854 AC: 1242822AN: 1455520Hom.: 532303 Cov.: 42 AF XY: 0.857 AC XY: 620151AN XY: 723760
GnomAD4 genome ? AF: 0.793 AC: 120606AN: 152054Hom.: 48729 Cov.: 31 AF XY: 0.797 AC XY: 59215AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at