rs2034769488
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PP3_Moderate
The NM_152219.4(GJD3):c.560A>C(p.Lys187Thr) variant causes a missense change. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152219.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GJD3 | NM_152219.4 | c.560A>C | p.Lys187Thr | missense_variant | Exon 1 of 1 | ENST00000578689.2 | NP_689343.3 | |
GJD3-AS1 | NR_186704.1 | n.412T>G | non_coding_transcript_exon_variant | Exon 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 150624Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00227 AC: 2871AN: 1263244Hom.: 0 Cov.: 33 AF XY: 0.00219 AC XY: 1367AN XY: 623054
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 150624Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73514
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.560A>C (p.K187T) alteration is located in exon 1 (coding exon 1) of the GJD3 gene. This alteration results from a A to C substitution at nucleotide position 560, causing the lysine (K) at amino acid position 187 to be replaced by a threonine (T). 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