chr8-143726189-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_198488.5(FAM83H):c.3272C>T(p.Ser1091Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,612,256 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 (★).
Frequency
Consequence
NM_198488.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAM83H | ENST00000388913.4 | c.3272C>T | p.Ser1091Leu | missense_variant | Exon 5 of 5 | 5 | NM_198488.5 | ENSP00000373565.3 | ||
FAM83H | ENST00000650760.1 | c.3875C>T | p.Ser1292Leu | missense_variant | Exon 5 of 5 | ENSP00000499217.1 | ||||
FAM83H | ENST00000395103.2 | n.2450C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 | ENSP00000378535.2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152252Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000877 AC: 21AN: 239530Hom.: 0 AF XY: 0.0000457 AC XY: 6AN XY: 131294
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1460004Hom.: 0 Cov.: 82 AF XY: 0.00000826 AC XY: 6AN XY: 726318
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152252Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74384
ClinVar
Submissions by phenotype
not provided Uncertain:1
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at