9-131261268-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_033387.4(FAM78A):c.406G>A(p.Gly136Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000807 in 1,609,992 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033387.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000661 AC: 10AN: 151190Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000483 AC: 12AN: 248358Hom.: 0 AF XY: 0.0000372 AC XY: 5AN XY: 134400
GnomAD4 exome AF: 0.0000823 AC: 120AN: 1458802Hom.: 0 Cov.: 66 AF XY: 0.0000785 AC XY: 57AN XY: 725802
GnomAD4 genome AF: 0.0000661 AC: 10AN: 151190Hom.: 0 Cov.: 31 AF XY: 0.0000949 AC XY: 7AN XY: 73786
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.406G>A (p.G136S) alteration is located in exon 2 (coding exon 2) of the FAM78A gene. This alteration results from a G to A substitution at nucleotide position 406, causing the glycine (G) at amino acid position 136 to be replaced by a serine (S). 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