4-17642224-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_015688.2(FAM184B):c.2351G>A(p.Arg784Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000683 in 1,493,962 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015688.2 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 |
---|---|---|---|---|---|---|---|
FAM184B | NM_015688.2 | c.2351G>A | p.Arg784Gln | missense_variant | 13/18 | ENST00000265018.4 | |
FAM184B | XM_047450066.1 | c.2351G>A | p.Arg784Gln | missense_variant | 13/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM184B | ENST00000265018.4 | c.2351G>A | p.Arg784Gln | missense_variant | 13/18 | 1 | NM_015688.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000154 AC: 13AN: 84190Hom.: 0 AF XY: 0.000169 AC XY: 8AN XY: 47370
GnomAD4 exome AF: 0.0000671 AC: 90AN: 1341664Hom.: 0 Cov.: 59 AF XY: 0.0000938 AC XY: 62AN XY: 660900
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152298Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2021 | The c.2351G>A (p.R784Q) alteration is located in exon 13 (coding exon 13) of the FAM184B gene. This alteration results from a G to A substitution at nucleotide position 2351, causing the arginine (R) at amino acid position 784 to be replaced by a glutamine (Q). 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