rs6628886
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_031442.4(TMEM47):c.367+2587A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.287 in 110,941 control chromosomes in the GnomAD database, including 3,446 homozygotes. There are 9,416 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_031442.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM47 | NM_031442.4 | c.367+2587A>G | intron_variant | ENST00000275954.4 | NP_113630.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM47 | ENST00000275954.4 | c.367+2587A>G | intron_variant | 1 | NM_031442.4 | ENSP00000275954.3 |
Frequencies
GnomAD3 genomes AF: 0.287 AC: 31791AN: 110891Hom.: 3442 Cov.: 23 AF XY: 0.283 AC XY: 9388AN XY: 33123
GnomAD4 genome AF: 0.287 AC: 31821AN: 110941Hom.: 3446 Cov.: 23 AF XY: 0.284 AC XY: 9416AN XY: 33183
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at