X-130637309-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_006375.4(ENOX2):c.1231G>A(p.Gly411Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000182 in 1,097,104 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006375.4 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 Cov.: 23
GnomAD3 exomes AF: 0.0000818 AC: 15AN: 183469Hom.: 0 AF XY: 0.0000589 AC XY: 4AN XY: 67909
GnomAD4 exome AF: 0.0000182 AC: 20AN: 1097104Hom.: 0 Cov.: 29 AF XY: 0.0000166 AC XY: 6AN XY: 362462
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1318G>A (p.G440S) alteration is located in exon 12 (coding exon 9) of the ENOX2 gene. This alteration results from a G to A substitution at nucleotide position 1318, causing the glycine (G) at amino acid position 440 to be replaced by a serine (S). 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