12-13061658-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020853.2(FAM234B):c.616G>T(p.Ala206Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000547 in 1,461,782 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020853.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAM234B | ENST00000197268.13 | c.616G>T | p.Ala206Ser | missense_variant | Exon 4 of 13 | 1 | NM_020853.2 | ENSP00000197268.8 | ||
FAM234B | ENST00000416494.6 | n.616G>T | non_coding_transcript_exon_variant | Exon 4 of 14 | 2 | ENSP00000394063.2 | ||||
FAM234B | ENST00000537625.1 | c.-57G>T | upstream_gene_variant | 1 | ENSP00000437974.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251104Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135712
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461782Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 727186
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.616G>T (p.A206S) alteration is located in exon 4 (coding exon 4) of the FAM234B gene. This alteration results from a G to T substitution at nucleotide position 616, causing the alanine (A) at amino acid position 206 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