6-54926527-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001010872.3(FAM83B):c.601C>T(p.Arg201Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000078 in 1,410,438 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R201H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001010872.3 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 Cov.: 32
GnomAD3 exomes AF: 0.00000447 AC: 1AN: 223552Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 121076
GnomAD4 exome AF: 0.00000780 AC: 11AN: 1410438Hom.: 0 Cov.: 30 AF XY: 0.00000429 AC XY: 3AN XY: 699272
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.601C>T (p.R201C) alteration is located in exon 3 (coding exon 2) of the FAM83B gene. This alteration results from a C to T substitution at nucleotide position 601, causing the arginine (R) at amino acid position 201 to be replaced by a cysteine (C). 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