rs1555796329
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_002029.4(FPR1):c.1037_1038delinsCA(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 (★). Another nucleotide change resulting in same amino acid change has been previously reported as Benignin ClinVar. Synonymous variant affecting the same amino acid position (i.e. E346E) has been classified as Likely benign.
Frequency
Consequence
NM_002029.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FPR1 | NM_002029.4 | c.1037_1038delinsCA | p.Glu346Ala | missense_variant | 2/2 | ENST00000304748.5 | |
FPR1 | NM_001193306.2 | c.1037_1038delinsCA | p.Glu346Ala | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FPR1 | ENST00000304748.5 | c.1037_1038delinsCA | p.Glu346Ala | missense_variant | 2/2 | 1 | NM_002029.4 | P1 | |
FPR1 | ENST00000594900.2 | c.1037_1038delinsCA | p.Glu346Ala | missense_variant | 3/3 | 4 | P1 | ||
FPR1 | ENST00000595042.5 | c.1037_1038delinsCA | p.Glu346Ala | missense_variant | 3/3 | 2 | P1 | ||
FPR1 | ENST00000600815.2 | c.1037_1038delinsCA | p.Glu346Ala | missense_variant | 2/2 | 3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 genome ? Cov.: 30
ClinVar
Submissions by phenotype
Gingival disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 19, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at