2-96972149-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001122646.3(FAM178B):āc.316T>Cā(p.Phe106Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000792 in 1,540,774 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001122646.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000414 AC: 63AN: 152174Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000284 AC: 4AN: 141070Hom.: 0 AF XY: 0.0000133 AC XY: 1AN XY: 75308
GnomAD4 exome AF: 0.0000425 AC: 59AN: 1388482Hom.: 0 Cov.: 30 AF XY: 0.0000409 AC XY: 28AN XY: 684336
GnomAD4 genome AF: 0.000414 AC: 63AN: 152292Hom.: 0 Cov.: 33 AF XY: 0.000416 AC XY: 31AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.316T>C (p.F106L) alteration is located in exon 3 (coding exon 3) of the FAM178B gene. This alteration results from a T to C substitution at nucleotide position 316, causing the phenylalanine (F) at amino acid position 106 to be replaced by a leucine (L). 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