12-49588455-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_032130.3(FAM186B):c.2533C>T(p.Arg845Cys) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00108 in 1,610,608 control chromosomes in the GnomAD database, including 36 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/22 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_032130.3 missense, splice_region
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM186B | NM_032130.3 | c.2533C>T | p.Arg845Cys | missense_variant, splice_region_variant | 6/7 | ENST00000257894.2 | NP_115506.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAM186B | ENST00000257894.2 | c.2533C>T | p.Arg845Cys | missense_variant, splice_region_variant | 6/7 | 1 | NM_032130.3 | ENSP00000257894 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00119 AC: 181AN: 152200Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00242 AC: 602AN: 248840Hom.: 8 AF XY: 0.00219 AC XY: 294AN XY: 134380
GnomAD4 exome AF: 0.00107 AC: 1562AN: 1458290Hom.: 32 Cov.: 31 AF XY: 0.00100 AC XY: 726AN XY: 724942
GnomAD4 genome AF: 0.00119 AC: 181AN: 152318Hom.: 4 Cov.: 32 AF XY: 0.00119 AC XY: 89AN XY: 74480
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Oct 30, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at