22-37825037-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_003614.2(GALR3):c.674C>A(p.Ala225Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00101 in 1,152,814 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003614.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000561 AC: 83AN: 148058Hom.: 1 Cov.: 34
GnomAD4 exome AF: 0.00107 AC: 1077AN: 1004756Hom.: 2 Cov.: 32 AF XY: 0.00108 AC XY: 510AN XY: 473504
GnomAD4 genome AF: 0.000561 AC: 83AN: 148058Hom.: 1 Cov.: 34 AF XY: 0.000486 AC XY: 35AN XY: 72064
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.674C>A (p.A225E) alteration is located in exon 2 (coding exon 2) of the GALR3 gene. This alteration results from a C to A substitution at nucleotide position 674, causing the alanine (A) at amino acid position 225 to be replaced by a glutamic acid (E). 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