X-34129926-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_203408.4(FAM47A):c.2353G>A(p.Val785Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000644 in 1,195,757 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 22 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_203408.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000981 AC: 11AN: 112124Hom.: 0 Cov.: 23 AF XY: 0.0000875 AC XY: 3AN XY: 34276
GnomAD3 exomes AF: 0.0000531 AC: 9AN: 169342Hom.: 0 AF XY: 0.0000353 AC XY: 2AN XY: 56634
GnomAD4 exome AF: 0.0000609 AC: 66AN: 1083633Hom.: 0 Cov.: 30 AF XY: 0.0000539 AC XY: 19AN XY: 352655
GnomAD4 genome AF: 0.0000981 AC: 11AN: 112124Hom.: 0 Cov.: 23 AF XY: 0.0000875 AC XY: 3AN XY: 34276
ClinVar
Submissions by phenotype
not provided Benign:2
- -
- -
not specified Uncertain:1
The c.2353G>A (p.V785I) alteration is located in exon 1 (coding exon 1) of the FAM47A gene. This alteration results from a G to A substitution at nucleotide position 2353, causing the valine (V) at amino acid position 785 to be replaced by an isoleucine (I). 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