chr11-11920465-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001282659.2(USP47):c.1189A>C(p.Met397Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001282659.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
USP47 | NM_001282659.2 | c.1189A>C | p.Met397Leu | missense_variant | 10/28 | ENST00000527733.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USP47 | ENST00000527733.7 | c.1189A>C | p.Met397Leu | missense_variant | 10/28 | 1 | NM_001282659.2 | P3 | |
USP47 | ENST00000399455.2 | c.1249A>C | p.Met417Leu | missense_variant | 11/29 | 5 | A1 | ||
USP47 | ENST00000339865.9 | c.985A>C | p.Met329Leu | missense_variant | 9/27 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 24, 2022 | The c.985A>C (p.M329L) alteration is located in exon 9 (coding exon 9) of the USP47 gene. This alteration results from a A to C substitution at nucleotide position 985, causing the methionine (M) at amino acid position 329 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.