chr9-97314867-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020893.6(CCDC180):c.716A>G(p.Lys239Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000333 in 1,614,034 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020893.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCDC180 | NM_020893.6 | c.716A>G | p.Lys239Arg | missense_variant | 8/37 | ENST00000529487.3 | |
SUGT1P4-STRA6LP-CCDC180 | NR_036528.1 | n.2271A>G | non_coding_transcript_exon_variant | 22/51 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC180 | ENST00000529487.3 | c.716A>G | p.Lys239Arg | missense_variant | 8/37 | 1 | NM_020893.6 | P1 | |
CCDC180 | ENST00000494917.6 | n.919A>G | non_coding_transcript_exon_variant | 9/20 | 1 | ||||
CCDC180 | ENST00000460482.6 | n.1050A>G | non_coding_transcript_exon_variant | 9/21 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000184 AC: 28AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000187 AC: 47AN: 251454Hom.: 0 AF XY: 0.000199 AC XY: 27AN XY: 135904
GnomAD4 exome AF: 0.000349 AC: 510AN: 1461710Hom.: 1 Cov.: 30 AF XY: 0.000348 AC XY: 253AN XY: 727176
GnomAD4 genome ? AF: 0.000184 AC: 28AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74498
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 01, 2022 | The c.848A>G (p.K283R) alteration is located in exon 8 (coding exon 8) of the CCDC180 gene. This alteration results from a A to G substitution at nucleotide position 848, causing the lysine (K) at amino acid position 283 to be replaced by an arginine (R). 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