NM_173611.4:c.827A>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173611.4(FAM98B):āc.827A>Gā(p.Glu276Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,858 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. E276V) has been classified as Uncertain significance.
Frequency
Consequence
NM_173611.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAM98B | ENST00000397609.6 | c.827A>G | p.Glu276Gly | missense_variant | Exon 7 of 8 | 5 | NM_173611.4 | ENSP00000380734.2 | ||
FAM98B | ENST00000491535.5 | c.827A>G | p.Glu276Gly | missense_variant | Exon 7 of 7 | 1 | ENSP00000453166.1 | |||
FAM98B | ENST00000559431.1 | c.259-3203A>G | intron_variant | Intron 3 of 3 | 5 | ENSP00000453926.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461858Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727216
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.