8-143726250-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_198488.5(FAM83H):c.3211C>G(p.Leu1071Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000156 in 1,612,368 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_198488.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM83H | NM_198488.5 | c.3211C>G | p.Leu1071Val | missense_variant | 5/5 | ENST00000388913.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM83H | ENST00000388913.4 | c.3211C>G | p.Leu1071Val | missense_variant | 5/5 | 5 | NM_198488.5 | P2 | |
FAM83H | ENST00000650760.1 | c.3814C>G | p.Leu1272Val | missense_variant | 5/5 | A2 | |||
FAM83H | ENST00000395103.2 | c.2392C>G | p.Leu798Val | missense_variant, NMD_transcript_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152240Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000298 AC: 71AN: 238286Hom.: 0 AF XY: 0.000390 AC XY: 51AN XY: 130672
GnomAD4 exome AF: 0.000165 AC: 241AN: 1460010Hom.: 2 Cov.: 83 AF XY: 0.000244 AC XY: 177AN XY: 726320
GnomAD4 genome ? AF: 0.0000722 AC: 11AN: 152358Hom.: 0 Cov.: 34 AF XY: 0.000134 AC XY: 10AN XY: 74490
ClinVar
Submissions by phenotype
FAM83H-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 06, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at