X-137030381-G-A
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_054021.2(GPR101):c.1294C>T(p.Pro432Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000243 in 1,208,041 control chromosomes in the GnomAD database, including 1 homozygotes. There are 81 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0013 ( 1 hom., 39 hem., cov: 23)
Exomes 𝑓: 0.00013 ( 0 hom. 42 hem. )
Consequence
GPR101
NM_054021.2 missense
NM_054021.2 missense
Scores
2
7
8
Clinical Significance
Conservation
PhyloP100: 8.82
Genes affected
GPR101 (HGNC:14963): (G protein-coupled receptor 101) The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.013741642).
BP6
Variant X-137030381-G-A is Benign according to our data. Variant chrX-137030381-G-A is described in ClinVar as [Benign]. Clinvar id is 1590841.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High Hemizygotes in GnomAd4 at 39 XL gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GPR101 | NM_054021.2 | c.1294C>T | p.Pro432Ser | missense_variant | 2/2 | ENST00000651716.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPR101 | ENST00000651716.2 | c.1294C>T | p.Pro432Ser | missense_variant | 2/2 | NM_054021.2 | P1 | ||
ENST00000693626.2 | n.394-30144G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.00134 AC: 150AN: 111588Hom.: 1 Cov.: 23 AF XY: 0.00116 AC XY: 39AN XY: 33764
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GnomAD3 exomes AF: 0.000305 AC: 55AN: 180188Hom.: 0 AF XY: 0.0000926 AC XY: 6AN XY: 64800
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GnomAD4 exome AF: 0.000132 AC: 145AN: 1096399Hom.: 0 Cov.: 31 AF XY: 0.000116 AC XY: 42AN XY: 361889
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GnomAD4 genome AF: 0.00133 AC: 149AN: 111642Hom.: 1 Cov.: 23 AF XY: 0.00115 AC XY: 39AN XY: 33828
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ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 16, 2024 | - - |
GPR101-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 28, 2023 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Uncertain
DANN
Uncertain
DEOGEN2
Benign
T
FATHMM_MKL
Pathogenic
D
LIST_S2
Benign
T
M_CAP
Benign
T
MetaRNN
Benign
T
MetaSVM
Benign
T
MutationAssessor
Uncertain
M
MutationTaster
Benign
D
PrimateAI
Uncertain
T
PROVEAN
Uncertain
D
REVEL
Uncertain
Sift
Uncertain
D
Sift4G
Uncertain
D
Polyphen
D
Vest4
MVP
MPC
ClinPred
T
GERP RS
Varity_R
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