8-143726031-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.3430G>A(p.Glu1144Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,612,696 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198488.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
FAM83H | ENST00000388913.4 | c.3430G>A | p.Glu1144Lys | missense_variant | Exon 5 of 5 | 5 | NM_198488.5 | ENSP00000373565.3 | ||
FAM83H | ENST00000650760.1 | c.4033G>A | p.Glu1345Lys | missense_variant | Exon 5 of 5 | ENSP00000499217.1 | ||||
FAM83H | ENST00000395103.2 | n.2608G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 | ENSP00000378535.2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152194Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460502Hom.: 0 Cov.: 83 AF XY: 0.00000138 AC XY: 1AN XY: 726560
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152194Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74356
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.3430G>A (p.E1144K) 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 3430, causing the glutamic acid (E) at amino acid position 1144 to be replaced by a lysine (K). 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