rs547792479
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001424184.1(TMEM247):c.328C>A(p.Arg110Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000299 in 1,338,870 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. R110C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001424184.1 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 |
---|---|---|---|---|---|---|---|---|
TMEM247 | NM_001424184.1 | c.328C>A | p.Arg110Ser | missense_variant | Exon 2 of 3 | NP_001411113.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM247 | ENST00000434431.2 | c.328C>A | p.Arg110Ser | missense_variant | Exon 2 of 3 | 5 | ENSP00000388684.1 | |||
ENSG00000284608 | ENST00000432241.5 | n.365-3629C>A | intron_variant | Intron 4 of 4 | 3 | |||||
ENSG00000253515 | ENST00000517716.2 | n.80-19116C>A | intron_variant | Intron 2 of 3 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.0000129 AC: 2AN: 155480Hom.: 0 AF XY: 0.0000121 AC XY: 1AN XY: 82506
GnomAD4 exome AF: 0.00000299 AC: 4AN: 1338870Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 659330
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at