3-56624489-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001365635.2(TASOR):āc.4473G>Cā(p.Glu1491Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000422 in 1,612,584 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001365635.2 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 | UniProt |
---|---|---|---|---|---|---|---|
TASOR | NM_001365635.2 | c.4473G>C | p.Glu1491Asp | missense_variant | 23/24 | ENST00000683822.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TASOR | ENST00000683822.1 | c.4473G>C | p.Glu1491Asp | missense_variant | 23/24 | NM_001365635.2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152196Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249344Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134794
GnomAD4 exome AF: 0.0000452 AC: 66AN: 1460270Hom.: 0 Cov.: 32 AF XY: 0.0000427 AC XY: 31AN XY: 726424
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152314Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2023 | The c.4473G>C (p.E1491D) alteration is located in exon 23 (coding exon 23) of the FAM208A gene. This alteration results from a G to C substitution at nucleotide position 4473, causing the glutamic acid (E) at amino acid position 1491 to be replaced by an aspartic acid (D). 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