rs761681612
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_172369.5(C1QC):c.212_213del(p.Pro71GlnfsTer39) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,608,950 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P71P) has been classified as Benign.
Frequency
Consequence
NM_172369.5 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C1QC | NM_172369.5 | c.212_213del | p.Pro71GlnfsTer39 | frameshift_variant | 3/3 | ENST00000374640.9 | |
C1QC | NM_001114101.3 | c.212_213del | p.Pro71GlnfsTer39 | frameshift_variant | 3/3 | ||
C1QC | NM_001347619.2 | c.212_213del | p.Pro71GlnfsTer39 | frameshift_variant | 3/3 | ||
C1QC | NM_001347620.2 | c.-56_-55del | 5_prime_UTR_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C1QC | ENST00000374640.9 | c.212_213del | p.Pro71GlnfsTer39 | frameshift_variant | 3/3 | 1 | NM_172369.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151902Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457048Hom.: 0 AF XY: 0.00000138 AC XY: 1AN XY: 725020
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151902Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74176
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at