chr10-32805090-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001395015.1(CCDC7):c.3089G>T(p.Ser1030Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,453,906 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.3089G>T | p.Ser1030Ile | missense_variant | 31/44 | ENST00000639629.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC7 | ENST00000639629.2 | c.3089G>T | p.Ser1030Ile | missense_variant | 31/44 | 5 | NM_001395015.1 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249486Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135094
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1453906Hom.: 0 Cov.: 28 AF XY: 0.00000276 AC XY: 2AN XY: 723708
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 13, 2021 | The c.902G>T (p.S301I) alteration is located in exon 11 (coding exon 9) of the CCDC7 gene. This alteration results from a G to T substitution at nucleotide position 902, causing the serine (S) at amino acid position 301 to be replaced by an isoleucine (I). 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