rs12424244
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_153634.3(CPNE8):c.407+7529G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0766 in 152,198 control chromosomes in the GnomAD database, including 575 homozygotes. 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 0.077 ( 575 hom., cov: 32)
Consequence
CPNE8
NM_153634.3 intron
NM_153634.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0430
Genes affected
CPNE8 (HGNC:23498): (copine 8) Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.269 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CPNE8 | NM_153634.3 | c.407+7529G>C | intron_variant | ENST00000331366.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CPNE8 | ENST00000331366.10 | c.407+7529G>C | intron_variant | 1 | NM_153634.3 | P1 | |||
CPNE8 | ENST00000360449.3 | c.371+7529G>C | intron_variant | 2 | |||||
CPNE8 | ENST00000550863.1 | c.-77+7529G>C | intron_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0766 AC: 11656AN: 152080Hom.: 576 Cov.: 32
GnomAD3 genomes
?
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11656
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152080
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0766 AC: 11660AN: 152198Hom.: 575 Cov.: 32 AF XY: 0.0760 AC XY: 5656AN XY: 74422
GnomAD4 genome
?
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AC:
11660
AN:
152198
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32
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5656
AN XY:
74422
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Asia WGS
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577
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3476
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
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