19-5914940-C-G
Variant names:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004058.5(CAPS):āc.262C>Gā(p.Pro88Ala) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000069 in 1,448,888 control chromosomes in the GnomAD database, with no homozygous occurrence. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 33)
Exomes š: 6.9e-7 ( 0 hom. )
Consequence
CAPS
NM_004058.5 missense, splice_region
NM_004058.5 missense, splice_region
Scores
7
9
Splicing: ADA: 0.2353
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 6.94
Genes affected
CAPS (HGNC:1487): (calcyphosine) This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAPS | NM_004058.5 | c.262C>G | p.Pro88Ala | missense_variant, splice_region_variant | Exon 4 of 5 | ENST00000588776.8 | NP_004049.3 | |
CAPS | NM_080590.4 | c.262C>G | p.Pro88Ala | missense_variant, splice_region_variant | Exon 4 of 5 | NP_542157.3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 genomes
Cov.:
33
GnomAD3 exomes AF: 0.00000423 AC: 1AN: 236300Hom.: 0 AF XY: 0.00000773 AC XY: 1AN XY: 129412
GnomAD3 exomes
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1
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236300
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129412
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GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1448888Hom.: 0 Cov.: 32 AF XY: 0.00000139 AC XY: 1AN XY: 721078
GnomAD4 exome
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1
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1448888
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32
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1
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721078
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GnomAD4 genome Cov.: 33
GnomAD4 genome
Cov.:
33
ExAC
AF:
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1
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Uncertain
DEOGEN2
Benign
.;.;T
Eigen
Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Uncertain
D
LIST_S2
Uncertain
D;T;T
M_CAP
Benign
T
MetaRNN
Uncertain
T;T;T
MetaSVM
Benign
T
PrimateAI
Uncertain
T
REVEL
Benign
Sift4G
Benign
T;T;D
Vest4
MutPred
0.32
.;.;Loss of catalytic residue at P88 (P = 0.01);
MVP
ClinPred
D
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
Varity_R
Splicing
Name
Calibrated prediction
Score
Prediction
dbscSNV1_ADA
Benign
dbscSNV1_RF
Benign
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at