rs6542517
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The ENST00000409811.5(STEAP3):c.1350A>T(p.Gln450His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0231 in 1,498,542 control chromosomes in the GnomAD database, including 1,640 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
ENST00000409811.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STEAP3 | NM_182915.3 | c.1215+2773A>T | intron_variant | ENST00000393110.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STEAP3 | ENST00000393110.7 | c.1215+2773A>T | intron_variant | 1 | NM_182915.3 | ||||
STEAP3-AS1 | ENST00000654197.1 | n.112-9259T>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0652 AC: 9917AN: 152136Hom.: 808 Cov.: 32
GnomAD3 exomes AF: 0.0297 AC: 2872AN: 96554Hom.: 152 AF XY: 0.0296 AC XY: 1558AN XY: 52712
GnomAD4 exome AF: 0.0184 AC: 24710AN: 1346288Hom.: 832 Cov.: 31 AF XY: 0.0192 AC XY: 12701AN XY: 662454
GnomAD4 genome ? AF: 0.0652 AC: 9925AN: 152254Hom.: 808 Cov.: 32 AF XY: 0.0642 AC XY: 4782AN XY: 74432
ClinVar
Submissions by phenotype
STEAP3-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 26, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at