11-67452544-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_206997.1(GPR152):c.181G>A(p.Gly61Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00794 in 1,606,520 control chromosomes in the GnomAD database, including 962 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.011 ( 93 hom., cov: 33)
Exomes 𝑓: 0.0076 ( 869 hom. )
Consequence
GPR152
NM_206997.1 missense
NM_206997.1 missense
Scores
2
16
Clinical Significance
Conservation
PhyloP100: 1.38
Genes affected
GPR152 (HGNC:23622): (G protein-coupled receptor 152) Enables identical protein binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
CABP4 (HGNC:1386): (calcium binding protein 4) This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.0016772151).
BP6
?
Variant 11-67452544-C-T is Benign according to our data. Variant chr11-67452544-C-T is described in ClinVar as [Benign]. Clinvar id is 802691.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.175 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GPR152 | NM_206997.1 | c.181G>A | p.Gly61Arg | missense_variant | 1/1 | ENST00000312457.2 | |
CABP4 | NM_001300896.3 | c.-215C>T | 5_prime_UTR_variant | 1/7 | |||
CABP4 | NM_001379183.1 | c.-611C>T | 5_prime_UTR_variant | 1/9 | |||
CABP4 | XM_024448615.2 | c.-2789C>T | 5_prime_UTR_variant | 1/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPR152 | ENST00000312457.2 | c.181G>A | p.Gly61Arg | missense_variant | 1/1 | NM_206997.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0108 AC: 1638AN: 152224Hom.: 92 Cov.: 33
GnomAD3 genomes
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GnomAD3 exomes AF: 0.0194 AC: 4460AN: 229754Hom.: 324 AF XY: 0.0176 AC XY: 2215AN XY: 125548
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GnomAD4 exome AF: 0.00764 AC: 11108AN: 1454176Hom.: 869 Cov.: 32 AF XY: 0.00748 AC XY: 5406AN XY: 722972
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GnomAD4 genome ? AF: 0.0108 AC: 1645AN: 152344Hom.: 93 Cov.: 33 AF XY: 0.0133 AC XY: 993AN XY: 74498
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Asia WGS
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208
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3478
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Cone-rod synaptic disorder, congenital nonprogressive Benign:1
Benign, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Uncertain
DEOGEN2
Benign
T
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
T
MetaRNN
Benign
T
MetaSVM
Benign
T
MutationAssessor
Benign
N
MutationTaster
Benign
P;P
PrimateAI
Uncertain
T
PROVEAN
Benign
N
REVEL
Benign
Sift
Benign
T
Sift4G
Benign
T
Polyphen
B
Vest4
MutPred
Loss of catalytic residue at G61 (P = 0.0172);
MPC
ClinPred
T
GERP RS
Varity_R
gMVP
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