8-143726297-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198488.5(FAM83H):c.3164G>A(p.Arg1055His) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,611,994 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. R1055C) has been classified as Uncertain significance.
Frequency
Consequence
NM_198488.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM83H | NM_198488.5 | c.3164G>A | p.Arg1055His | missense_variant | 5/5 | ENST00000388913.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM83H | ENST00000388913.4 | c.3164G>A | p.Arg1055His | missense_variant | 5/5 | 5 | NM_198488.5 | P2 | |
FAM83H | ENST00000650760.1 | c.3767G>A | p.Arg1256His | missense_variant | 5/5 | A2 | |||
FAM83H | ENST00000395103.2 | c.2345G>A | p.Arg782His | missense_variant, NMD_transcript_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459820Hom.: 0 Cov.: 82 AF XY: 0.00 AC XY: 0AN XY: 726194
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74338
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 01, 2021 | The c.3164G>A (p.R1055H) alteration is located in exon 5 (coding exon 4) of the FAM83H gene. This alteration results from a G to A substitution at nucleotide position 3164, causing the arginine (R) at amino acid position 1055 to be replaced by a histidine (H). 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