7-92562348-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152789.4(FAM133B):c.678G>C(p.Lys226Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000000724 in 1,380,826 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_152789.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM133B | NM_152789.4 | c.678G>C | p.Lys226Asn | missense_variant | Exon 11 of 11 | ENST00000445716.6 | NP_690002.2 | |
FAM133B | NM_001040057.3 | c.648G>C | p.Lys216Asn | missense_variant | Exon 12 of 12 | NP_001035146.1 | ||
FAM133B | NM_001288584.2 | c.648G>C | p.Lys216Asn | missense_variant | Exon 11 of 11 | NP_001275513.1 | ||
FAM133B | NR_109929.2 | n.736G>C | non_coding_transcript_exon_variant | Exon 11 of 11 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 7.24e-7 AC: 1AN: 1380826Hom.: 0 Cov.: 29 AF XY: 0.00000147 AC XY: 1AN XY: 681376
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.678G>C (p.K226N) alteration is located in exon 11 (coding exon 11) of the FAM133B gene. This alteration results from a G to C substitution at nucleotide position 678, causing the lysine (K) at amino acid position 226 to be replaced by an asparagine (N). 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