X-71216669-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001097642.3(GJB1):c.-17+1379C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.179 in 109,893 control chromosomes in the GnomAD database, including 1,456 homozygotes. There are 5,409 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001097642.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GJB1 | NM_001097642.3 | c.-17+1379C>T | intron_variant | Intron 1 of 1 | NP_001091111.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GJB1 | ENST00000675368 | c.-608C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 2 | ENSP00000501757.1 | |||||
GJB1 | ENST00000675368 | c.-608C>T | 5_prime_UTR_variant | Exon 1 of 2 | ENSP00000501757.1 | |||||
GJB1 | ENST00000374029.2 | c.-17+1398C>T | intron_variant | Intron 1 of 1 | 5 | ENSP00000363141.1 |
Frequencies
GnomAD3 genomes AF: 0.179 AC: 19690AN: 109841Hom.: 1451 Cov.: 21 AF XY: 0.168 AC XY: 5399AN XY: 32141
GnomAD4 genome AF: 0.179 AC: 19704AN: 109893Hom.: 1456 Cov.: 21 AF XY: 0.168 AC XY: 5409AN XY: 32205
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at