chr8-143726298-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_198488.5(FAM83H):c.3163C>T(p.Arg1055Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,611,976 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1055H) has been classified as Uncertain significance.
Frequency
Consequence
NM_198488.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM83H | NM_198488.5 | c.3163C>T | p.Arg1055Cys | missense_variant | 5/5 | ENST00000388913.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM83H | ENST00000388913.4 | c.3163C>T | p.Arg1055Cys | missense_variant | 5/5 | 5 | NM_198488.5 | P2 | |
FAM83H | ENST00000650760.1 | c.3766C>T | p.Arg1256Cys | missense_variant | 5/5 | A2 | |||
FAM83H | ENST00000395103.2 | c.2344C>T | p.Arg782Cys | missense_variant, NMD_transcript_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1459794Hom.: 0 Cov.: 84 AF XY: 0.0000110 AC XY: 8AN XY: 726184
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 20, 2022 | The c.3163C>T (p.R1055C) alteration is located in exon 5 (coding exon 4) of the FAM83H gene. This alteration results from a C to T substitution at nucleotide position 3163, causing the arginine (R) at amino acid position 1055 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