12-49588535-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 2P and 12B. PM2BP4_StrongBP6_Very_Strong
The NM_032130.3(FAM186B):c.2453G>A(p.Arg818Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000425 in 1,612,994 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_032130.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM186B | NM_032130.3 | c.2453G>A | p.Arg818Gln | missense_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.2453G>A | p.Arg818Gln | missense_variant | 6/7 | 1 | NM_032130.3 | ENSP00000257894 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00218 AC: 332AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000659 AC: 165AN: 250358Hom.: 0 AF XY: 0.000414 AC XY: 56AN XY: 135268
GnomAD4 exome AF: 0.000243 AC: 355AN: 1460706Hom.: 1 Cov.: 31 AF XY: 0.000209 AC XY: 152AN XY: 726550
GnomAD4 genome AF: 0.00217 AC: 330AN: 152288Hom.: 0 Cov.: 32 AF XY: 0.00212 AC XY: 158AN XY: 74468
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 07, 2023 | - - |
Likely benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at