chr22-37185445-C-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_031910.4(C1QTNF6):c.62G>T(p.Gly21Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.426 in 1,599,432 control chromosomes in the GnomAD database, including 147,086 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_031910.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
C1QTNF6 | NM_031910.4 | c.62G>T | p.Gly21Val | missense_variant | Exon 2 of 3 | ENST00000337843.7 | NP_114116.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.407 AC: 61739AN: 151776Hom.: 12908 Cov.: 32
GnomAD3 exomes AF: 0.432 AC: 103902AN: 240514Hom.: 23143 AF XY: 0.437 AC XY: 56962AN XY: 130356
GnomAD4 exome AF: 0.428 AC: 619783AN: 1447538Hom.: 134179 Cov.: 43 AF XY: 0.430 AC XY: 308798AN XY: 718952
GnomAD4 genome AF: 0.407 AC: 61758AN: 151894Hom.: 12907 Cov.: 32 AF XY: 0.408 AC XY: 30256AN XY: 74228
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at