rs191461105
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_004004.6(GJB2):c.-22-35G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000241 in 1,474,250 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_004004.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GJB2 | NM_004004.6 | c.-22-35G>T | intron_variant | ENST00000382848.5 | |||
GJB2 | XM_011535049.3 | c.-22-35G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GJB2 | ENST00000382848.5 | c.-22-35G>T | intron_variant | 1 | NM_004004.6 | P1 | |||
GJB2 | ENST00000382844.2 | c.-57G>T | 5_prime_UTR_variant | 1/1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000407 AC: 62AN: 152182Hom.: 1 Cov.: 33
GnomAD4 exome AF: 0.000222 AC: 293AN: 1321950Hom.: 1 Cov.: 20 AF XY: 0.000194 AC XY: 129AN XY: 665532
GnomAD4 genome ? AF: 0.000407 AC: 62AN: 152300Hom.: 1 Cov.: 33 AF XY: 0.000430 AC XY: 32AN XY: 74482
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at