11-95775958-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_144664.5(FAM76B):c.894G>C(p.Met298Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000565 in 1,592,896 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_144664.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000330 AC: 5AN: 151294Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000277 AC: 4AN: 1441602Hom.: 0 Cov.: 30 AF XY: 0.00000139 AC XY: 1AN XY: 717226
GnomAD4 genome AF: 0.0000330 AC: 5AN: 151294Hom.: 0 Cov.: 32 AF XY: 0.0000271 AC XY: 2AN XY: 73906
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.894G>C (p.M298I) alteration is located in exon 9 (coding exon 9) of the FAM76B gene. This alteration results from a G to C substitution at nucleotide position 894, causing the methionine (M) at amino acid position 298 to be replaced by an isoleucine (I). 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