chr8-60189993-CAAAA-C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_004056.6(CA8):c.*36-12_*36-9delTTTT 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 0.0 ( 0 hom., cov: 26)
Failed GnomAD Quality Control
Consequence
CA8
NM_004056.6 intron
NM_004056.6 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.495
Publications
0 publications found
Genes affected
CA8 (HGNC:1382): (carbonic anhydrase 8) The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
CA8 Gene-Disease associations (from GenCC):
- cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P
- cerebellar ataxiaInheritance: AR Classification: MODERATE Submitted by: ClinGen
- cerebellar ataxia, intellectual disability, and dysequilibriumInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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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_004056.6. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
Frequencies
GnomAD3 genomes 0.00 AC: 0AN: 109288Hom.: 0 Cov.: 26
GnomAD3 genomes
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109288
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26
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.00 AC: 0AN: 109288Hom.: 0 Cov.: 26 AF XY: 0.00 AC XY: 0AN XY: 52228
GnomAD4 genome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
109288
Hom.:
Cov.:
26
AF XY:
AC XY:
0
AN XY:
52228
African (AFR)
AF:
AC:
0
AN:
34734
American (AMR)
AF:
AC:
0
AN:
9674
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2552
East Asian (EAS)
AF:
AC:
0
AN:
3594
South Asian (SAS)
AF:
AC:
0
AN:
3458
European-Finnish (FIN)
AF:
AC:
0
AN:
5826
Middle Eastern (MID)
AF:
AC:
0
AN:
214
European-Non Finnish (NFE)
AF:
AC:
0
AN:
47178
Other (OTH)
AF:
AC:
0
AN:
1454
ClinVar
Not reported inComputational scores
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Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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