chr4-17642194-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_015688.2(FAM184B):c.2381C>T(p.Pro794Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000875 in 1,371,924 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.2381C>T | p.Pro794Leu | missense_variant | 13/18 | ENST00000265018.4 | |
FAM184B | XM_047450066.1 | c.2381C>T | p.Pro794Leu | missense_variant | 13/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM184B | ENST00000265018.4 | c.2381C>T | p.Pro794Leu | missense_variant | 13/18 | 1 | NM_015688.2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000171 AC: 2AN: 116668Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 64534
GnomAD4 exome AF: 0.00000875 AC: 12AN: 1371924Hom.: 0 Cov.: 59 AF XY: 0.0000118 AC XY: 8AN XY: 676844
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 07, 2022 | The c.2381C>T (p.P794L) alteration is located in exon 13 (coding exon 13) of the FAM184B gene. This alteration results from a C to T substitution at nucleotide position 2381, causing the proline (P) at amino acid position 794 to be replaced by a leucine (L). 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