9-97343500-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_020893.6(CCDC180):āc.2435C>Gā(p.Ser812Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.264 in 1,612,734 control chromosomes in the GnomAD database, including 58,719 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_020893.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCDC180 | NM_020893.6 | c.2435C>G | p.Ser812Cys | missense_variant | 19/37 | ENST00000529487.3 | NP_065944.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC180 | ENST00000529487.3 | c.2435C>G | p.Ser812Cys | missense_variant | 19/37 | 1 | NM_020893.6 | ENSP00000434727.2 |
Frequencies
GnomAD3 genomes AF: 0.295 AC: 44827AN: 151876Hom.: 7265 Cov.: 32
GnomAD3 exomes AF: 0.266 AC: 66801AN: 251382Hom.: 9567 AF XY: 0.265 AC XY: 35965AN XY: 135874
GnomAD4 exome AF: 0.261 AC: 381048AN: 1460740Hom.: 51445 Cov.: 35 AF XY: 0.262 AC XY: 190058AN XY: 726740
GnomAD4 genome AF: 0.295 AC: 44876AN: 151994Hom.: 7274 Cov.: 32 AF XY: 0.288 AC XY: 21388AN XY: 74308
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 17, 2020 | This variant is associated with the following publications: (PMID: 19442274) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at