10-122836358-GAAAAAAA-GAA
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_022034.6(CUZD1):c.818-13_818-9delTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00022 in 1,206,800 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000014 ( 0 hom., cov: 0)
Exomes 𝑓: 0.00025 ( 0 hom. )
Consequence
CUZD1
NM_022034.6 intron
NM_022034.6 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.31
Publications
1 publications found
Genes affected
CUZD1 (HGNC:17937): (CUB and zona pellucida like domains 1) Predicted to be involved in trypsinogen activation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
CUZD1 Gene-Disease associations (from GenCC):
- schizophreniaInheritance: Unknown Classification: NO_KNOWN Submitted by: Labcorp Genetics (formerly Invitae)
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_022034.6. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| CUZD1 | NM_022034.6 | MANE Select | c.818-13_818-9delTTTTT | intron | N/A | NP_071317.2 | |||
| CUZD1 | NR_037912.2 | n.681-13_681-9delTTTTT | intron | N/A | |||||
| FAM24B-CUZD1 | NR_037915.1 | n.1494-13_1494-9delTTTTT | intron | N/A |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| CUZD1 | ENST00000392790.6 | TSL:1 MANE Select | c.818-13_818-9delTTTTT | intron | N/A | ENSP00000376540.1 | Q86UP6-1 | ||
| CUZD1 | ENST00000338948.3 | TSL:1 | n.83-1266_83-1262delTTTTT | intron | N/A | ENSP00000340905.4 | A0A0A0MRA6 | ||
| CUZD1 | ENST00000368899.5 | TSL:1 | n.931-13_931-9delTTTTT | intron | N/A |
Frequencies
GnomAD3 genomes 0.0000142 AC: 2AN: 141026Hom.: 0 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
2
AN:
141026
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
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Gnomad EAS
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Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD2 exomes AF: 0.000943 AC: 67AN: 71052 AF XY: 0.00111 show subpopulations
GnomAD2 exomes
AF:
AC:
67
AN:
71052
AF XY:
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
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Gnomad FIN exome
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Gnomad NFE exome
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Gnomad OTH exome
AF:
GnomAD4 exome AF: 0.000247 AC: 263AN: 1065774Hom.: 0 AF XY: 0.000285 AC XY: 149AN XY: 522704 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
GnomAD4 exome
AF:
AC:
263
AN:
1065774
Hom.:
AF XY:
AC XY:
149
AN XY:
522704
show subpopulations
⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
African (AFR)
AF:
AC:
5
AN:
22092
American (AMR)
AF:
AC:
9
AN:
16338
Ashkenazi Jewish (ASJ)
AF:
AC:
5
AN:
16648
East Asian (EAS)
AF:
AC:
7
AN:
29064
South Asian (SAS)
AF:
AC:
35
AN:
46660
European-Finnish (FIN)
AF:
AC:
16
AN:
33576
Middle Eastern (MID)
AF:
AC:
1
AN:
3634
European-Non Finnish (NFE)
AF:
AC:
174
AN:
853420
Other (OTH)
AF:
AC:
11
AN:
44342
⚠️ The allele balance in gnomAD4 Exomes is highly skewed from 0.5 (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.248
Heterozygous variant carriers
0
36
71
107
142
178
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Exome Het
Variant carriers
0
10
20
30
40
50
<30
30-35
35-40
40-45
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Age
GnomAD4 genome 0.0000142 AC: 2AN: 141026Hom.: 0 Cov.: 0 AF XY: 0.0000147 AC XY: 1AN XY: 67998 show subpopulations ⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
GnomAD4 genome
AF:
AC:
2
AN:
141026
Hom.:
Cov.:
0
AF XY:
AC XY:
1
AN XY:
67998
show subpopulations
⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
African (AFR)
AF:
AC:
0
AN:
38256
American (AMR)
AF:
AC:
0
AN:
14204
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3352
East Asian (EAS)
AF:
AC:
0
AN:
4874
South Asian (SAS)
AF:
AC:
0
AN:
4412
European-Finnish (FIN)
AF:
AC:
1
AN:
7998
Middle Eastern (MID)
AF:
AC:
0
AN:
298
European-Non Finnish (NFE)
AF:
AC:
1
AN:
64820
Other (OTH)
AF:
AC:
0
AN:
1916
⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.250
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
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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