14-44962453-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001308120.2(TOGARAM1):āc.32T>Cā(p.Leu11Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000031 in 1,582,582 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001308120.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TOGARAM1 | NM_001308120.2 | c.32T>C | p.Leu11Pro | missense_variant | Exon 1 of 20 | ENST00000361462.7 | NP_001295049.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000665 AC: 15AN: 225716Hom.: 0 AF XY: 0.0000651 AC XY: 8AN XY: 122904
GnomAD4 exome AF: 0.0000301 AC: 43AN: 1430390Hom.: 0 Cov.: 31 AF XY: 0.0000310 AC XY: 22AN XY: 709306
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.32T>C (p.L11P) alteration is located in exon 1 (coding exon 1) of the FAM179B gene. This alteration results from a T to C substitution at nucleotide position 32, causing the leucine (L) at amino acid position 11 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