chr12-122798172-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_201435.5(CCDC62):āc.949A>Gā(p.Met317Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000014 in 1,426,116 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_201435.5 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 |
---|---|---|---|---|---|---|---|
CCDC62 | NM_201435.5 | c.949A>G | p.Met317Val | missense_variant | 8/13 | ENST00000253079.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC62 | ENST00000253079.11 | c.949A>G | p.Met317Val | missense_variant | 8/13 | 1 | NM_201435.5 | P3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249684Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134876
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1426116Hom.: 0 Cov.: 24 AF XY: 0.00000141 AC XY: 1AN XY: 711608
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 12, 2023 | The c.949A>G (p.M317V) alteration is located in exon 8 (coding exon 8) of the CCDC62 gene. This alteration results from a A to G substitution at nucleotide position 949, causing the methionine (M) at amino acid position 317 to be replaced by a valine (V). 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