rs172378
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_015991.4(C1QA):āc.276A>Cā(p.Gly92=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,042 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. Synonymous variant affecting the same amino acid position (i.e. G92G) has been classified as Benign.
Frequency
Consequence
NM_015991.4 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 |
---|---|---|---|---|---|---|---|
C1QA | NM_015991.4 | c.276A>C | p.Gly92= | synonymous_variant | 3/3 | ENST00000374642.8 | |
C1QA | NM_001347465.2 | c.276A>C | p.Gly92= | synonymous_variant | 3/3 | ||
C1QA | NM_001347466.2 | c.276A>C | p.Gly92= | synonymous_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C1QA | ENST00000374642.8 | c.276A>C | p.Gly92= | synonymous_variant | 3/3 | 1 | NM_015991.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152042Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 83
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152042Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74258
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at