17-40363280-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_152219.4(GJD3):c.536G>T(p.Cys179Phe) variant causes a missense change. The variant allele was found at a frequency of 0.000000786 in 1,271,864 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GJD3 | NM_152219.4 | c.536G>T | p.Cys179Phe | missense_variant | Exon 1 of 1 | ENST00000578689.2 | NP_689343.3 | |
GJD3-AS1 | NR_186704.1 | n.436C>A | non_coding_transcript_exon_variant | Exon 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.86e-7 AC: 1AN: 1271864Hom.: 0 Cov.: 33 AF XY: 0.00000160 AC XY: 1AN XY: 625836
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.536G>T (p.C179F) alteration is located in exon 1 (coding exon 1) of the GJD3 gene. This alteration results from a G to T substitution at nucleotide position 536, causing the cysteine (C) at amino acid position 179 to be replaced by a phenylalanine (F). 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
Publications
No publications associated with this variant yet.