chr10-32729388-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001395015.1(CCDC7):c.2836G>C(p.Glu946Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000442 in 1,381,408 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001395015.1 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 |
---|---|---|---|---|---|---|---|
CCDC7 | NM_001395015.1 | c.2836G>C | p.Glu946Gln | missense_variant | 29/44 | ENST00000639629.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC7 | ENST00000639629.2 | c.2836G>C | p.Glu946Gln | missense_variant | 29/44 | 5 | NM_001395015.1 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000385 AC: 9AN: 233704Hom.: 0 AF XY: 0.0000551 AC XY: 7AN XY: 127052
GnomAD4 exome AF: 0.0000442 AC: 61AN: 1381408Hom.: 0 Cov.: 26 AF XY: 0.0000494 AC XY: 34AN XY: 688284
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2021 | The c.757G>C (p.E253Q) alteration is located in exon 10 (coding exon 8) of the CCDC7 gene. This alteration results from a G to C substitution at nucleotide position 757, causing the glutamic acid (E) at amino acid position 253 to be replaced by a glutamine (Q). 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