1-38875123-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030772.5(GJA9):c.976G>C(p.Glu326Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,614,010 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030772.5 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 |
---|---|---|---|---|---|---|---|---|
GJA9 | NM_030772.5 | c.976G>C | p.Glu326Gln | missense_variant | Exon 2 of 2 | ENST00000357771.5 | NP_110399.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GJA9 | ENST00000357771.5 | c.976G>C | p.Glu326Gln | missense_variant | Exon 2 of 2 | 1 | NM_030772.5 | ENSP00000350415.3 | ||
ENSG00000274944 | ENST00000621281.1 | c.37-2033G>C | intron_variant | Intron 1 of 4 | 2 | ENSP00000479064.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152172Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461838Hom.: 0 Cov.: 34 AF XY: 0.0000138 AC XY: 10AN XY: 727214
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.976G>C (p.E326Q) alteration is located in exon 2 (coding exon 1) of the GJA9 gene. This alteration results from a G to C substitution at nucleotide position 976, causing the glutamic acid (E) at amino acid position 326 to be replaced by a glutamine (Q). 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