12-7088721-G-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001733.7(C1R):c.927C>T(p.Cys309=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000639 in 625,502 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_001733.7 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 |
---|---|---|---|---|---|---|---|
C1R | NM_001733.7 | c.927C>T | p.Cys309= | synonymous_variant | 7/11 | ENST00000647956.2 | |
C1R | NM_001354346.2 | c.969C>T | p.Cys323= | synonymous_variant | 7/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C1R | ENST00000647956.2 | c.927C>T | p.Cys309= | synonymous_variant | 7/11 | NM_001733.7 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243498Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131850
GnomAD4 exome AF: 0.00000639 AC: 4AN: 625502Hom.: 0 Cov.: 0 AF XY: 0.00000587 AC XY: 2AN XY: 340442
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at