rs10522027
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_031442.4(TMEM47):c.*150C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.168 in 525,871 control chromosomes in the GnomAD database, including 6,739 homozygotes. There are 24,702 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 3_prime_UTR
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 | UniProt |
---|---|---|---|---|---|---|---|
TMEM47 | NM_031442.4 | c.*150C>T | 3_prime_UTR_variant | 3/3 | ENST00000275954.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM47 | ENST00000275954.4 | c.*150C>T | 3_prime_UTR_variant | 3/3 | 1 | NM_031442.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.143 AC: 16025AN: 112016Hom.: 1076 Cov.: 23 AF XY: 0.146 AC XY: 4999AN XY: 34198
GnomAD4 exome AF: 0.174 AC: 72060AN: 413802Hom.: 5662 Cov.: 6 AF XY: 0.187 AC XY: 19699AN XY: 105282
GnomAD4 genome ? AF: 0.143 AC: 16026AN: 112069Hom.: 1077 Cov.: 23 AF XY: 0.146 AC XY: 5003AN XY: 34261
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at