rs8030587
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_020759.3(STARD9):c.8030G>A(p.Arg2677His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.248 in 1,537,068 control chromosomes in the GnomAD database, including 64,581 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_020759.3 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 |
---|---|---|---|---|---|---|---|
STARD9 | NM_020759.3 | c.8030G>A | p.Arg2677His | missense_variant | 23/33 | ENST00000290607.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STARD9 | ENST00000290607.12 | c.8030G>A | p.Arg2677His | missense_variant | 23/33 | 5 | NM_020759.3 | P1 | |
STARD9 | ENST00000562619.1 | c.14G>A | p.Arg5His | missense_variant, NMD_transcript_variant | 1/10 | 1 |
Frequencies
GnomAD3 genomes AF: 0.388 AC: 58933AN: 151968Hom.: 17478 Cov.: 32
GnomAD3 exomes AF: 0.274 AC: 39065AN: 142636Hom.: 7421 AF XY: 0.283 AC XY: 21576AN XY: 76134
GnomAD4 exome AF: 0.233 AC: 322344AN: 1384982Hom.: 47045 Cov.: 37 AF XY: 0.238 AC XY: 162620AN XY: 683430
GnomAD4 genome AF: 0.388 AC: 59048AN: 152086Hom.: 17536 Cov.: 32 AF XY: 0.385 AC XY: 28616AN XY: 74338
ClinVar
Submissions by phenotype
STARD9-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 21, 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