rs80297119
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PP3_StrongBS2_Supporting
The NM_024009.3(GJB3):c.529T>A(p.Tyr177Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,612,940 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y177D) has been classified as Likely benign.
Frequency
Consequence
NM_024009.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GJB3 | NM_024009.3 | c.529T>A | p.Tyr177Asn | missense_variant | 2/2 | ENST00000373366.3 | |
GJB3 | NM_001005752.2 | c.529T>A | p.Tyr177Asn | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GJB3 | ENST00000373366.3 | c.529T>A | p.Tyr177Asn | missense_variant | 2/2 | 1 | NM_024009.3 | P1 | |
GJB3 | ENST00000373362.3 | c.529T>A | p.Tyr177Asn | missense_variant | 2/2 | 1 | P1 | ||
SMIM12 | ENST00000426886.1 | c.208-66882A>T | intron_variant, NMD_transcript_variant | 1 | |||||
ENST00000542839.1 | n.110+2697A>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000330 AC: 5AN: 151578Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251182Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135798
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461362Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 727034
GnomAD4 genome ? AF: 0.0000330 AC: 5AN: 151578Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 73988
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at