chr8-12185448-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001083537.4(FAM86B1):c.718C>T(p.Arg240Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00049 in 146,830 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001083537.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM86B1 | NM_001083537.4 | c.718C>T | p.Arg240Trp | missense_variant | 6/7 | ENST00000448228.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM86B1 | ENST00000448228.7 | c.718C>T | p.Arg240Trp | missense_variant | 6/7 | 5 | NM_001083537.4 |
Frequencies
GnomAD3 genomes AF: 0.000491 AC: 72AN: 146724Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.000282 AC: 55AN: 194702Hom.: 1 AF XY: 0.000234 AC XY: 25AN XY: 106774
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000227 AC: 327AN: 1438948Hom.: 1 Cov.: 50 AF XY: 0.000207 AC XY: 148AN XY: 715650
GnomAD4 genome AF: 0.000490 AC: 72AN: 146830Hom.: 0 Cov.: 26 AF XY: 0.000476 AC XY: 34AN XY: 71492
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 01, 2022 | The c.718C>T (p.R240W) alteration is located in exon 6 (coding exon 6) of the FAM86B1 gene. This alteration results from a C to T substitution at nucleotide position 718, causing the arginine (R) at amino acid position 240 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at