16-58254118-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014157.4(CFAP263):c.349C>T(p.His117Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014157.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC113 | ENST00000219299.8 | c.349C>T | p.His117Tyr | missense_variant | Exon 3 of 9 | 1 | NM_014157.4 | ENSP00000219299.4 | ||
CCDC113 | ENST00000443128.6 | c.228+1265C>T | intron_variant | Intron 2 of 7 | 2 | ENSP00000402588.2 | ||||
CCDC113 | ENST00000561517.5 | n.101+4003C>T | intron_variant | Intron 1 of 3 | 4 | ENSP00000454618.1 | ||||
CCDC113 | ENST00000569374.1 | c.*22C>T | downstream_gene_variant | 4 | ENSP00000455923.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.349C>T (p.H117Y) alteration is located in exon 3 (coding exon 3) of the CCDC113 gene. This alteration results from a C to T substitution at nucleotide position 349, causing the histidine (H) at amino acid position 117 to be replaced by a tyrosine (Y). 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
Publications
No publications associated with this variant yet.