rs376100419
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001377989.1(FAM110B):c.1099G>A(p.Val367Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000992 in 1,613,422 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V367F) has been classified as Uncertain significance.
Frequency
Consequence
NM_001377989.1 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 |
---|---|---|---|---|---|---|---|---|
FAM110B | NM_001377989.1 | c.1099G>A | p.Val367Ile | missense_variant | Exon 4 of 4 | ENST00000519262.6 | NP_001364918.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAM110B | ENST00000519262.6 | c.1099G>A | p.Val367Ile | missense_variant | Exon 4 of 4 | 2 | NM_001377989.1 | ENSP00000509301.1 | ||
FAM110B | ENST00000361488.7 | c.1099G>A | p.Val367Ile | missense_variant | Exon 5 of 5 | 2 | ENSP00000355204.3 | |||
FAM110B | ENST00000520369.5 | n.427-50502G>A | intron_variant | Intron 3 of 4 | 4 | |||||
FAM110B | ENST00000523486.5 | n.226-41989G>A | intron_variant | Intron 2 of 3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250424Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135366
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461204Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 726870
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at