chr5-177524410-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001190946.3(FAM193B):c.2071G>A(p.Glu691Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000348 in 1,438,810 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001190946.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000469 AC: 1AN: 213148Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 116544
GnomAD4 exome AF: 0.00000348 AC: 5AN: 1438810Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 714210
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2071G>A (p.E691K) alteration is located in exon 6 (coding exon 6) of the FAM193B gene. This alteration results from a G to A substitution at nucleotide position 2071, causing the glutamic acid (E) at amino acid position 691 to be replaced by a lysine (K). 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