2-117935557-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_019044.5(CCDC93):c.1666C>T(p.Arg556Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000103 in 1,461,560 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R556Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_019044.5 missense
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 |
---|---|---|---|---|---|---|---|
CCDC93 | NM_019044.5 | c.1666C>T | p.Arg556Trp | missense_variant | 22/24 | ENST00000376300.7 | |
CCDC93 | XM_011511359.2 | c.1663C>T | p.Arg555Trp | missense_variant | 22/24 | ||
CCDC93 | XM_011511361.1 | c.1378C>T | p.Arg460Trp | missense_variant | 21/23 | ||
CCDC93 | XM_047444816.1 | c.1267C>T | p.Arg423Trp | missense_variant | 19/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC93 | ENST00000376300.7 | c.1666C>T | p.Arg556Trp | missense_variant | 22/24 | 1 | NM_019044.5 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250942Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135614
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461560Hom.: 0 Cov.: 30 AF XY: 0.00000825 AC XY: 6AN XY: 727114
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 19, 2023 | The c.1666C>T (p.R556W) alteration is located in exon 22 (coding exon 22) of the CCDC93 gene. This alteration results from a C to T substitution at nucleotide position 1666, causing the arginine (R) at amino acid position 556 to be replaced by a tryptophan (W). 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