17-44689569-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_144609.3(CCDC43):c.185G>A(p.Gly62Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000372 in 1,613,876 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 Uncertain significance (★).
Frequency
Consequence
NM_144609.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCDC43 | NM_144609.3 | c.185G>A | p.Gly62Glu | missense_variant | Exon 1 of 5 | ENST00000315286.13 | NP_653210.2 | |
CCDC43 | NM_001099225.2 | c.185G>A | p.Gly62Glu | missense_variant | Exon 1 of 4 | NP_001092695.1 | ||
LOC124904010 | XR_007065770.1 | n.-212C>T | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC43 | ENST00000315286.13 | c.185G>A | p.Gly62Glu | missense_variant | Exon 1 of 5 | 1 | NM_144609.3 | ENSP00000323782.7 | ||
CCDC43 | ENST00000588210.1 | c.185G>A | p.Gly62Glu | missense_variant | Exon 1 of 5 | 1 | ENSP00000467630.1 | |||
CCDC43 | ENST00000457422.6 | c.185G>A | p.Gly62Glu | missense_variant | Exon 1 of 4 | 1 | ENSP00000400845.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249090Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135152
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461674Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727124
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.185G>A (p.G62E) alteration is located in exon 1 (coding exon 1) of the CCDC43 gene. This alteration results from a G to A substitution at nucleotide position 185, causing the glycine (G) at amino acid position 62 to be replaced by a glutamic acid (E). 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