chr6-116765510-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001085480.3(FAM162B):c.67G>A(p.Ala23Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000293 in 1,398,570 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001085480.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM162B | NM_001085480.3 | c.67G>A | p.Ala23Thr | missense_variant | 1/4 | ENST00000368557.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM162B | ENST00000368557.6 | c.67G>A | p.Ala23Thr | missense_variant | 1/4 | 1 | NM_001085480.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152162Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000152 AC: 19AN: 1246290Hom.: 0 Cov.: 31 AF XY: 0.0000166 AC XY: 10AN XY: 601984
GnomAD4 genome AF: 0.000144 AC: 22AN: 152280Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2021 | The c.67G>A (p.A23T) alteration is located in exon 1 (coding exon 1) of the FAM162B gene. This alteration results from a G to A substitution at nucleotide position 67, causing the alanine (A) at amino acid position 23 to be replaced by a threonine (T). 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