chr7-34778526-G-A
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6_ModerateBS1BS2
The NM_207172.2(NPSR1):c.345G>A(p.Thr115=) variant causes a synonymous change. The variant allele was found at a frequency of 0.00151 in 1,612,876 control chromosomes in the GnomAD database, including 33 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0076 ( 11 hom., cov: 32)
Exomes 𝑓: 0.00088 ( 22 hom. )
Consequence
NPSR1
NM_207172.2 synonymous
NM_207172.2 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 4.42
Genes affected
NPSR1 (HGNC:23631): (neuropeptide S receptor 1) This gene encodes a member of the vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
NPSR1-AS1 (HGNC:22128): (NPSR1 antisense RNA 1) This gene is located within a region that has been associated with asthma susceptibility. The locus is considered non-protein-coding based on lack of protein homology and a lack of experimental support for an encoded protein. Three alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2010]
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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=-0.22).
BP6
Variant 7-34778526-G-A is Benign according to our data. Variant chr7-34778526-G-A is described in ClinVar as [Benign]. Clinvar id is 792072.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0076 (1157/152194) while in subpopulation AFR AF= 0.0267 (1109/41512). AF 95% confidence interval is 0.0254. There are 11 homozygotes in gnomad4. There are 571 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
High Homozygotes in GnomAd4 at 11 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NPSR1 | NM_207172.2 | c.345G>A | p.Thr115= | synonymous_variant | 3/9 | ENST00000360581.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NPSR1 | ENST00000360581.6 | c.345G>A | p.Thr115= | synonymous_variant | 3/9 | 1 | NM_207172.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00758 AC: 1153AN: 152078Hom.: 11 Cov.: 32
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GnomAD3 exomes AF: 0.00216 AC: 542AN: 250636Hom.: 7 AF XY: 0.00165 AC XY: 224AN XY: 135484
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GnomAD4 exome AF: 0.000878 AC: 1282AN: 1460682Hom.: 22 Cov.: 30 AF XY: 0.000798 AC XY: 580AN XY: 726670
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GnomAD4 genome AF: 0.00760 AC: 1157AN: 152194Hom.: 11 Cov.: 32 AF XY: 0.00767 AC XY: 571AN XY: 74404
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 08, 2018 | - - |
Computational scores
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BayesDel_noAF
Benign
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Benign
DANN
Benign
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at