chr12-49588460-A-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_032130.3(FAM186B):āc.2528T>Cā(p.Met843Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000123 in 1,611,624 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 (ā ).
Frequency
Consequence
NM_032130.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM186B | NM_032130.3 | c.2528T>C | p.Met843Thr | 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.2528T>C | p.Met843Thr | missense_variant | 6/7 | 1 | NM_032130.3 | ENSP00000257894 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000292 AC: 73AN: 249602Hom.: 1 AF XY: 0.000267 AC XY: 36AN XY: 134798
GnomAD4 exome AF: 0.000116 AC: 169AN: 1459290Hom.: 1 Cov.: 31 AF XY: 0.000120 AC XY: 87AN XY: 725584
GnomAD4 genome AF: 0.000190 AC: 29AN: 152334Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74494
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jul 19, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at