2-202724971-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173511.4(FAM117B):c.808C>T(p.Arg270Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000477 in 1,613,102 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. R270H) has been classified as Uncertain significance.
Frequency
Consequence
NM_173511.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM117B | NM_173511.4 | c.808C>T | p.Arg270Cys | missense_variant | 3/8 | ENST00000392238.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM117B | ENST00000392238.3 | c.808C>T | p.Arg270Cys | missense_variant | 3/8 | 1 | NM_173511.4 | P1 | |
FAM117B | ENST00000481658.1 | n.507C>T | non_coding_transcript_exon_variant | 3/3 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000658 AC: 10AN: 152076Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251244Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135794
GnomAD4 exome AF: 0.0000459 AC: 67AN: 1461026Hom.: 0 Cov.: 30 AF XY: 0.0000427 AC XY: 31AN XY: 726844
GnomAD4 genome ? AF: 0.0000658 AC: 10AN: 152076Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74282
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 14, 2021 | The c.808C>T (p.R270C) alteration is located in exon 3 (coding exon 3) of the FAM117B gene. This alteration results from a C to T substitution at nucleotide position 808, causing the arginine (R) at amino acid position 270 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