15-57955251-C-T
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_003888.4(ALDH1A2):c.1503G>A(p.Arg501Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00126 in 1,614,060 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_003888.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALDH1A2 | NM_003888.4 | c.1503G>A | p.Arg501Arg | synonymous_variant | Exon 13 of 13 | ENST00000249750.9 | NP_003879.2 | |
ALDH1A2 | NM_001206897.2 | c.1440G>A | p.Arg480Arg | synonymous_variant | Exon 14 of 14 | NP_001193826.1 | ||
ALDH1A2 | NM_170696.3 | c.1389G>A | p.Arg463Arg | synonymous_variant | Exon 12 of 12 | NP_733797.1 | ||
ALDH1A2 | NM_170697.3 | c.1215G>A | p.Arg405Arg | synonymous_variant | Exon 11 of 11 | NP_733798.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00142 AC: 216AN: 152074Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00160 AC: 399AN: 249612Hom.: 2 AF XY: 0.00176 AC XY: 237AN XY: 135042
GnomAD4 exome AF: 0.00125 AC: 1826AN: 1461868Hom.: 6 Cov.: 30 AF XY: 0.00138 AC XY: 1006AN XY: 727238
GnomAD4 genome AF: 0.00141 AC: 215AN: 152192Hom.: 1 Cov.: 32 AF XY: 0.00142 AC XY: 106AN XY: 74396
ClinVar
Submissions by phenotype
not provided Benign:2
ALDH1A2: BP4, BP7 -
- -
ALDH1A2-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at