12-13058537-G-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_020853.2(FAM234B):c.520G>A(p.Gly174Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0194 in 1,612,618 control chromosomes in the GnomAD database, including 499 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_020853.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAM234B | ENST00000197268.13 | c.520G>A | p.Gly174Arg | missense_variant | Exon 3 of 13 | 1 | NM_020853.2 | ENSP00000197268.8 | ||
FAM234B | ENST00000416494.6 | n.520G>A | non_coding_transcript_exon_variant | Exon 3 of 14 | 2 | ENSP00000394063.2 |
Frequencies
GnomAD3 genomes AF: 0.0146 AC: 2205AN: 150930Hom.: 33 Cov.: 32
GnomAD3 exomes AF: 0.0210 AC: 5288AN: 251428Hom.: 107 AF XY: 0.0229 AC XY: 3113AN XY: 135886
GnomAD4 exome AF: 0.0199 AC: 29124AN: 1461570Hom.: 462 Cov.: 31 AF XY: 0.0208 AC XY: 15156AN XY: 727120
GnomAD4 genome AF: 0.0147 AC: 2224AN: 151048Hom.: 37 Cov.: 32 AF XY: 0.0150 AC XY: 1104AN XY: 73732
ClinVar
Submissions by phenotype
FAM234B-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at