rs151849
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001317938.2(CCDC192):c.411+36789A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.292 in 152,124 control chromosomes in the GnomAD database, including 6,642 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 0.29 ( 6642 hom., cov: 32)
Consequence
CCDC192
NM_001317938.2 intron
NM_001317938.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.467
Genes affected
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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=-0.83).
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.436 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCDC192 | NM_001317938.2 | c.411+36789A>G | intron_variant | ENST00000514853.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC192 | ENST00000514853.5 | c.411+36789A>G | intron_variant | 5 | NM_001317938.2 | A2 | |||
CCDC192 | ENST00000706942.1 | c.468+36789A>G | intron_variant | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.292 AC: 44370AN: 152006Hom.: 6644 Cov.: 32
GnomAD3 genomes
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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: 0.292 AC: 44376AN: 152124Hom.: 6642 Cov.: 32 AF XY: 0.295 AC XY: 21911AN XY: 74340
GnomAD4 genome
?
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32
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21911
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1503
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3472
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at