3-191382806-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_178335.3(CCDC50):āc.1303A>Cā(p.Lys435Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,376 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 (ā ).
Frequency
Consequence
NM_178335.3 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 |
---|---|---|---|---|---|---|---|---|---|---|
CCDC50 | ENST00000392455.9 | c.1303A>C | p.Lys435Gln | missense_variant | Exon 10 of 12 | 1 | NM_178335.3 | ENSP00000376249.4 | ||
CCDC50 | ENST00000392456.4 | c.775A>C | p.Lys259Gln | missense_variant | Exon 9 of 11 | 1 | ENSP00000376250.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460376Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726566
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant classified as Uncertain Significance - Favor Benign. The p.Lys435Gln var iant in CCDC50 has been identified in 1 individual with hearing loss by our labo ratory; however, it did not segregate in an affected parent. This variant was ab sent from large population studies. Computational prediction tools and conservat ion analysis do not provide strong support for or against an impact to the prote in. In summary, while the clinical significance of the p.Lys435Gln variant is un certain, the non-segregation suggests it is more likely to be benign. ACMG/AMP C riteria applied: BS4_Supporting, PM2. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at