10-5730604-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001321783.2(TASOR2):c.605C>A(p.Pro202Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000158 in 1,614,052 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_001321783.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TASOR2 | NM_001321783.2 | c.605C>A | p.Pro202Gln | missense_variant | 12/22 | ENST00000695737.1 | NP_001308712.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TASOR2 | ENST00000695737.1 | c.605C>A | p.Pro202Gln | missense_variant | 12/22 | NM_001321783.2 | ENSP00000512130.1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000762 AC: 19AN: 249450Hom.: 0 AF XY: 0.0000739 AC XY: 10AN XY: 135320
GnomAD4 exome AF: 0.000163 AC: 239AN: 1461868Hom.: 0 Cov.: 31 AF XY: 0.000158 AC XY: 115AN XY: 727232
GnomAD4 genome AF: 0.000105 AC: 16AN: 152184Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.605C>A (p.P202Q) alteration is located in exon 11 (coding exon 8) of the FAM208B gene. This alteration results from a C to A substitution at nucleotide position 605, causing the proline (P) at amino acid position 202 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