rs255097
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001202475.1(CRHR2):c.184+1848C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.467 in 151,804 control chromosomes in the GnomAD database, including 19,225 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 0.47 ( 19225 hom., cov: 30)
Consequence
CRHR2
NM_001202475.1 intron
NM_001202475.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.716
Genes affected
CRHR2 (HGNC:2358): (corticotropin releasing hormone receptor 2) The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011]
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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=-0.9).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.602 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRHR2 | NM_001202475.1 | c.184+1848C>T | intron_variant | NP_001189404.1 | ||||
CRHR2 | NM_001202481.1 | c.-166-728C>T | intron_variant | NP_001189410.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CRHR2 | ENST00000348438.8 | c.184+1848C>T | intron_variant | 1 | ENSP00000340943.4 | |||||
CRHR2 | ENST00000445981.5 | c.184+1848C>T | intron_variant | 1 | ENSP00000401241.1 | |||||
CRHR2 | ENST00000423776.1 | n.185-728C>T | intron_variant | 1 | ENSP00000416620.1 |
Frequencies
GnomAD3 genomes AF: 0.467 AC: 70908AN: 151686Hom.: 19224 Cov.: 30
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GnomAD4 genome AF: 0.467 AC: 70915AN: 151804Hom.: 19225 Cov.: 30 AF XY: 0.465 AC XY: 34507AN XY: 74158
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ClinVar
Not reported inComputational scores
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Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at