rs1046584
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001143919.3(LTB4R):c.927C>A(p.Gly309=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000208 in 1,442,778 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
Consequence
NM_001143919.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LTB4R | NM_001143919.3 | c.927C>A | p.Gly309= | synonymous_variant | 2/2 | ENST00000345363.8 | |
LTB4R | NM_181657.3 | c.927C>A | p.Gly309= | synonymous_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LTB4R | ENST00000345363.8 | c.927C>A | p.Gly309= | synonymous_variant | 2/2 | 1 | NM_001143919.3 | P1 | |
LTB4R | ENST00000396782.2 | c.927C>A | p.Gly309= | synonymous_variant | 2/2 | 1 | P1 | ||
LTB4R | ENST00000396789.4 | c.927C>A | p.Gly309= | synonymous_variant | 2/2 | 1 | P1 | ||
LTB4R | ENST00000556141.1 | c.627C>A | p.Gly209= | synonymous_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151962Hom.: 0 Cov.: 33
GnomAD4 exome AF: 7.75e-7 AC: 1AN: 1290816Hom.: 0 Cov.: 32 AF XY: 0.00000158 AC XY: 1AN XY: 633182
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151962Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74220
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at