NM_031909.3:c.964G>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031909.3(C1QTNF4):c.964G>T(p.Gly322Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000259 in 1,547,098 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G322V) has been classified as Uncertain significance.
Frequency
Consequence
NM_031909.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
C1QTNF4 | NM_031909.3 | c.964G>T | p.Gly322Cys | missense_variant | Exon 2 of 2 | ENST00000302514.4 | NP_114115.2 | |
C1QTNF4 | XM_017017166.2 | c.964G>T | p.Gly322Cys | missense_variant | Exon 3 of 3 | XP_016872655.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152024Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000133 AC: 2AN: 149996Hom.: 0 AF XY: 0.0000251 AC XY: 2AN XY: 79672
GnomAD4 exome AF: 0.00000215 AC: 3AN: 1395074Hom.: 0 Cov.: 32 AF XY: 0.00000291 AC XY: 2AN XY: 687888
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152024Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74258
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.964G>T (p.G322C) alteration is located in exon 2 (coding exon 1) of the C1QTNF4 gene. This alteration results from a G to T substitution at nucleotide position 964, causing the glycine (G) at amino acid position 322 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at