rs140660551
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001883.5(CRHR2):c.978C>T(p.Phe326Phe) variant causes a synonymous change. The variant allele was found at a frequency of 0.00000496 in 1,614,084 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 0.0000066 ( 0 hom., cov: 33)
Exomes 𝑓: 0.0000048 ( 0 hom. )
Consequence
CRHR2
NM_001883.5 synonymous
NM_001883.5 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 5.78
Publications
0 publications found
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 was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.39).
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001883.5. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| CRHR2 | NM_001883.5 | MANE Select | c.978C>T | p.Phe326Phe | synonymous | Exon 10 of 12 | NP_001874.2 | ||
| CRHR2 | NM_001202475.1 | c.1059C>T | p.Phe353Phe | synonymous | Exon 11 of 13 | NP_001189404.1 | Q13324-2 | ||
| CRHR2 | NM_001202482.2 | c.975C>T | p.Phe325Phe | synonymous | Exon 10 of 12 | NP_001189411.1 | Q13324-7 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| CRHR2 | ENST00000471646.6 | TSL:1 MANE Select | c.978C>T | p.Phe326Phe | synonymous | Exon 10 of 12 | ENSP00000418722.1 | Q13324-1 | |
| CRHR2 | ENST00000348438.8 | TSL:1 | c.1059C>T | p.Phe353Phe | synonymous | Exon 11 of 13 | ENSP00000340943.4 | Q13324-2 | |
| CRHR2 | ENST00000506074.6 | TSL:1 | c.978C>T | p.Phe326Phe | synonymous | Exon 10 of 13 | ENSP00000426498.3 | Q13324-4 |
Frequencies
GnomAD3 genomes 0.00000657 AC: 1AN: 152258Hom.: 0 Cov.: 33 show subpopulations
GnomAD3 genomes
AF:
AC:
1
AN:
152258
Hom.:
Cov.:
33
Gnomad AFR
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Gnomad NFE
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Gnomad OTH
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GnomAD2 exomes AF: 0.0000119 AC: 3AN: 251398 AF XY: 0.00 show subpopulations
GnomAD2 exomes
AF:
AC:
3
AN:
251398
AF XY:
Gnomad AFR exome
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Gnomad ASJ exome
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Gnomad OTH exome
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GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461826Hom.: 0 Cov.: 33 AF XY: 0.00000550 AC XY: 4AN XY: 727230 show subpopulations
GnomAD4 exome
AF:
AC:
7
AN:
1461826
Hom.:
Cov.:
33
AF XY:
AC XY:
4
AN XY:
727230
show subpopulations
African (AFR)
AF:
AC:
0
AN:
33480
American (AMR)
AF:
AC:
1
AN:
44712
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
26126
East Asian (EAS)
AF:
AC:
0
AN:
39700
South Asian (SAS)
AF:
AC:
0
AN:
86256
European-Finnish (FIN)
AF:
AC:
0
AN:
53418
Middle Eastern (MID)
AF:
AC:
0
AN:
5766
European-Non Finnish (NFE)
AF:
AC:
5
AN:
1111976
Other (OTH)
AF:
AC:
1
AN:
60392
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.482
Heterozygous variant carriers
0
1
2
2
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0.00
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0.95
Allele balance
Age Distribution
Exome Het
Variant carriers
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Age
GnomAD4 genome 0.00000657 AC: 1AN: 152258Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74390 show subpopulations
GnomAD4 genome
AF:
AC:
1
AN:
152258
Hom.:
Cov.:
33
AF XY:
AC XY:
0
AN XY:
74390
show subpopulations
African (AFR)
AF:
AC:
1
AN:
41474
American (AMR)
AF:
AC:
0
AN:
15290
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3472
East Asian (EAS)
AF:
AC:
0
AN:
5202
South Asian (SAS)
AF:
AC:
0
AN:
4836
European-Finnish (FIN)
AF:
AC:
0
AN:
10630
Middle Eastern (MID)
AF:
AC:
0
AN:
316
European-Non Finnish (NFE)
AF:
AC:
0
AN:
68036
Other (OTH)
AF:
AC:
0
AN:
2090
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.525
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
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0.95
Allele balance
Alfa
AF:
Hom.:
Bravo
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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