rs1800947
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000567.3(CRP):c.552G>T(p.Leu184=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000254 in 1,614,058 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_000567.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRP | NM_000567.3 | c.552G>T | p.Leu184= | synonymous_variant | 2/2 | ENST00000255030.9 | NP_000558.2 | |
CRP | NM_001329057.2 | c.552G>T | p.Leu184= | synonymous_variant | 2/3 | NP_001315986.1 | ||
CRP | NM_001329058.2 | c.198-45G>T | intron_variant | NP_001315987.1 | ||||
CRP | NM_001382703.1 | c.194-8G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | NP_001369632.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CRP | ENST00000255030.9 | c.552G>T | p.Leu184= | synonymous_variant | 2/2 | 1 | NM_000567.3 | ENSP00000255030 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152166Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000437 AC: 11AN: 251474Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135914
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 727248
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152166Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74328
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at