NM_178335.3:c.49+232_49+233dupGG
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_178335.3(CCDC50):c.49+232_49+233dupGG variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000029 ( 0 hom., cov: 0)
Consequence
CCDC50
NM_178335.3 intron
NM_178335.3 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.702
Publications
0 publications found
Genes affected
CCDC50 (HGNC:18111): (coiled-coil domain containing 50) This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
UTS2B (HGNC:30894): (urotensin 2B) Predicted to enable G protein-coupled receptor binding activity. Predicted to be involved in regulation of blood pressure. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC50 | ENST00000392455.9 | c.49+219_49+220insGG | intron_variant | Intron 1 of 11 | 1 | NM_178335.3 | ENSP00000376249.4 | |||
UTS2B | ENST00000340524.10 | c.-665+471_-665+472insCC | intron_variant | Intron 1 of 8 | 2 | NM_198152.5 | ENSP00000340526.5 | |||
CCDC50 | ENST00000392456.4 | c.49+219_49+220insGG | intron_variant | Intron 1 of 10 | 1 | ENSP00000376250.4 | ||||
UTS2B | ENST00000432514.5 | c.-832+471_-832+472insCC | intron_variant | Intron 1 of 6 | 5 | ENSP00000401028.1 |
Frequencies
GnomAD3 genomes AF: 0.0000292 AC: 3AN: 102888Hom.: 0 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
3
AN:
102888
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
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Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0000291 AC: 3AN: 102956Hom.: 0 Cov.: 0 AF XY: 0.0000414 AC XY: 2AN XY: 48342 show subpopulations ⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
GnomAD4 genome
AF:
AC:
3
AN:
102956
Hom.:
Cov.:
0
AF XY:
AC XY:
2
AN XY:
48342
show subpopulations
⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
African (AFR)
AF:
AC:
1
AN:
33282
American (AMR)
AF:
AC:
0
AN:
10082
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2498
East Asian (EAS)
AF:
AC:
0
AN:
4286
South Asian (SAS)
AF:
AC:
0
AN:
3254
European-Finnish (FIN)
AF:
AC:
0
AN:
3534
Middle Eastern (MID)
AF:
AC:
0
AN:
208
European-Non Finnish (NFE)
AF:
AC:
2
AN:
43992
Other (OTH)
AF:
AC:
0
AN:
1356
⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0.000000), which strongly suggests a high chance of mosaicism in these individuals.
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.308
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
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0.60
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0.95
Allele balance
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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