2-56193192-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001080433.2(CCDC85A):c.992A>G(p.His331Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000992 in 1,612,206 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080433.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCDC85A | NM_001080433.2 | c.992A>G | p.His331Arg | missense_variant | 2/6 | ENST00000407595.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC85A | ENST00000407595.3 | c.992A>G | p.His331Arg | missense_variant | 2/6 | 1 | NM_001080433.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000265 AC: 4AN: 150988Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 248922Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135108
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461218Hom.: 0 Cov.: 32 AF XY: 0.00000825 AC XY: 6AN XY: 726880
GnomAD4 genome ? AF: 0.0000265 AC: 4AN: 150988Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73758
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 03, 2024 | The c.992A>G (p.H331R) alteration is located in exon 2 (coding exon 2) of the CCDC85A gene. This alteration results from a A to G substitution at nucleotide position 992, causing the histidine (H) at amino acid position 331 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