19-51745957-CT-TG
Position:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_002029.4(FPR1):c.1037_1038delAGinsCA(p.Glu346Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: not found (cov: 30)
Consequence
FPR1
NM_002029.4 missense
NM_002029.4 missense
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 1.10
Genes affected
FPR1 (HGNC:3826): (formyl peptide receptor 1) This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP6
Variant 19-51745957-CT-TG is Benign according to our data. Variant chr19-51745957-CT-TG is described in ClinVar as [Benign]. Clinvar id is 526513.Status of the report is criteria_provided_single_submitter, 1 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FPR1 | NM_002029.4 | c.1037_1038delAGinsCA | p.Glu346Ala | missense_variant | ENST00000304748.5 | NP_002020.1 | ||
FPR1 | NM_001193306.2 | c.1037_1038delAGinsCA | p.Glu346Ala | missense_variant | NP_001180235.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FPR1 | ENST00000304748.5 | c.1037_1038delAGinsCA | p.Glu346Ala | missense_variant | 1 | NM_002029.4 | ENSP00000302707.3 | |||
FPR1 | ENST00000594900.2 | c.1037_1038delAGinsCA | p.Glu346Ala | missense_variant | 4 | ENSP00000470750.2 | ||||
FPR1 | ENST00000595042.5 | c.1037_1038delAGinsCA | p.Glu346Ala | missense_variant | 2 | ENSP00000471493.1 | ||||
FPR1 | ENST00000600815.2 | c.1037_1038delAGinsCA | p.Glu346Ala | missense_variant | 3 | ENSP00000472936.2 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD3 genomes
Cov.:
30
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome Cov.: 30
GnomAD4 genome
Cov.:
30
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Gingival disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 19, 2024 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at