chrX-151180152-T-C
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Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_004224.3(GPR50):āc.569T>Cā(p.Val190Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000995 in 1,205,711 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 5 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Genomes: š 0.0000090 ( 0 hom., 0 hem., cov: 22)
Exomes š: 0.000010 ( 0 hom. 5 hem. )
Consequence
GPR50
NM_004224.3 missense
NM_004224.3 missense
Scores
7
10
Clinical Significance
Conservation
PhyloP100: 6.23
Genes affected
GPR50 (HGNC:4506): (G protein-coupled receptor 50) This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatonin receptor 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder in women. [provided by RefSeq, Jan 2010]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
High Hemizygotes in GnomAdExome4 at 5 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GPR50 | NM_004224.3 | c.569T>C | p.Val190Ala | missense_variant | 2/2 | ENST00000218316.4 | |
GPR50 | XM_011531216.3 | c.1+60T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPR50 | ENST00000218316.4 | c.569T>C | p.Val190Ala | missense_variant | 2/2 | 1 | NM_004224.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000896 AC: 1AN: 111603Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33761
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GnomAD3 exomes AF: 0.0000392 AC: 7AN: 178352Hom.: 0 AF XY: 0.0000610 AC XY: 4AN XY: 65576
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GnomAD4 exome AF: 0.0000101 AC: 11AN: 1094108Hom.: 0 Cov.: 33 AF XY: 0.0000138 AC XY: 5AN XY: 361176
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GnomAD4 genome AF: 0.00000896 AC: 1AN: 111603Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33761
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 25, 2023 | The c.569T>C (p.V190A) alteration is located in exon 2 (coding exon 2) of the GPR50 gene. This alteration results from a T to C substitution at nucleotide position 569, causing the valine (V) at amino acid position 190 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Uncertain
DEOGEN2
Uncertain
T
FATHMM_MKL
Uncertain
D
LIST_S2
Benign
T
M_CAP
Benign
D
MetaRNN
Uncertain
T
MetaSVM
Benign
T
MutationAssessor
Benign
L
MutationTaster
Benign
D
PrimateAI
Uncertain
T
PROVEAN
Uncertain
D
REVEL
Uncertain
Sift
Benign
T
Sift4G
Benign
T
Polyphen
B
Vest4
MutPred
Loss of helix (P = 0.1706);
MVP
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