10-5727115-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001321783.2(TASOR2):āc.479T>Cā(p.Leu160Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,614,040 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001321783.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TASOR2 | NM_001321783.2 | c.479T>C | p.Leu160Pro | missense_variant | 11/22 | ENST00000695737.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TASOR2 | ENST00000695737.1 | c.479T>C | p.Leu160Pro | missense_variant | 11/22 | NM_001321783.2 | |||
ENST00000411512.2 | n.222-14427A>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152250Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249324Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135270
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461790Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727192
GnomAD4 genome AF: 0.000138 AC: 21AN: 152250Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 17, 2023 | The c.479T>C (p.L160P) alteration is located in exon 10 (coding exon 7) of the FAM208B gene. This alteration results from a T to C substitution at nucleotide position 479, causing the leucine (L) at amino acid position 160 to be replaced by a proline (P). 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