NM_198568.3:c.-28+194C>T
Variant names:
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_198568.3(GJB7):c.-28+194C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 151,912 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
Genomes: 𝑓 0.000013 ( 0 hom., cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
GJB7
NM_198568.3 intron
NM_198568.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.28
Genes affected
GJB7 (HGNC:16690): (gap junction protein beta 7) Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GJB7 | NM_198568.3 | c.-28+194C>T | intron_variant | Intron 2 of 2 | ENST00000525899.6 | NP_940970.1 | ||
SMIM8 | NM_001042493.3 | c.-45+40G>A | intron_variant | Intron 1 of 3 | ENST00000392863.6 | NP_001035958.1 | ||
SMIM8 | NM_020425.6 | c.-24+40G>A | intron_variant | Intron 1 of 2 | NP_065158.3 | |||
SMIM8 | NM_001287445.2 | c.-24+40G>A | intron_variant | Intron 1 of 2 | NP_001274374.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151912Hom.: 0 Cov.: 32
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GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 98Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 68
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GnomAD4 genome AF: 0.0000132 AC: 2AN: 151912Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74192
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at