chr15-100879926-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000693.4(ALDH1A3):āc.19G>Cā(p.Ala7Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000614 in 1,466,054 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000693.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151810Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000123 AC: 1AN: 81188Hom.: 0 AF XY: 0.0000219 AC XY: 1AN XY: 45752
GnomAD4 exome AF: 0.00000304 AC: 4AN: 1314244Hom.: 0 Cov.: 30 AF XY: 0.00000309 AC XY: 2AN XY: 647256
GnomAD4 genome AF: 0.0000329 AC: 5AN: 151810Hom.: 0 Cov.: 33 AF XY: 0.0000405 AC XY: 3AN XY: 74164
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 17, 2023 | The c.19G>C (p.A7P) alteration is located in exon 1 (coding exon 1) of the ALDH1A3 gene. This alteration results from a G to C substitution at nucleotide position 19, causing the alanine (A) at amino acid position 7 to be replaced by a proline (P). 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