12-7080637-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_001733.7(C1R):c.2013G>A(p.Thr671Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000134 in 1,613,930 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001733.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
C1R | ENST00000647956.2 | c.2013G>A | p.Thr671Thr | synonymous_variant | Exon 11 of 11 | NM_001733.7 | ENSP00000497341.1 |
Frequencies
GnomAD3 genomes AF: 0.000822 AC: 125AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000213 AC: 53AN: 249156Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135168
GnomAD4 exome AF: 0.0000623 AC: 91AN: 1461690Hom.: 0 Cov.: 35 AF XY: 0.0000564 AC XY: 41AN XY: 727130
GnomAD4 genome AF: 0.000821 AC: 125AN: 152240Hom.: 0 Cov.: 32 AF XY: 0.000739 AC XY: 55AN XY: 74440
ClinVar
Submissions by phenotype
C1R-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at