15-57955214-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003888.4(ALDH1A2):āc.1540C>Gā(p.Pro514Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,860 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003888.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALDH1A2 | NM_003888.4 | c.1540C>G | p.Pro514Ala | missense_variant | Exon 13 of 13 | ENST00000249750.9 | NP_003879.2 | |
ALDH1A2 | NM_001206897.2 | c.1477C>G | p.Pro493Ala | missense_variant | Exon 14 of 14 | NP_001193826.1 | ||
ALDH1A2 | NM_170696.3 | c.1426C>G | p.Pro476Ala | missense_variant | Exon 12 of 12 | NP_733797.1 | ||
ALDH1A2 | NM_170697.3 | c.1252C>G | p.Pro418Ala | missense_variant | Exon 11 of 11 | NP_733798.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461860Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727240
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1540C>G (p.P514A) alteration is located in exon 13 (coding exon 13) of the ALDH1A2 gene. This alteration results from a C to G substitution at nucleotide position 1540, causing the proline (P) at amino acid position 514 to be replaced by an alanine (A). 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
Publications
No publications associated with this variant yet.