19-7610563-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_020902.2(CAMSAP3):c.848G>A(p.Arg283His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000669 in 1,613,562 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020902.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CAMSAP3 | ENST00000160298.9 | c.848G>A | p.Arg283His | missense_variant | Exon 6 of 17 | 2 | NM_020902.2 | ENSP00000160298.3 | ||
CAMSAP3 | ENST00000446248.4 | c.929G>A | p.Arg310His | missense_variant | Exon 8 of 19 | 1 | ENSP00000416797.1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152134Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249070Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135218
GnomAD4 exome AF: 0.0000616 AC: 90AN: 1461428Hom.: 0 Cov.: 35 AF XY: 0.0000536 AC XY: 39AN XY: 727010
GnomAD4 genome AF: 0.000118 AC: 18AN: 152134Hom.: 1 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.929G>A (p.R310H) alteration is located in exon 8 (coding exon 8) of the CAMSAP3 gene. This alteration results from a G to A substitution at nucleotide position 929, causing the arginine (R) at amino acid position 310 to be replaced by a histidine (H). 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