rs1996970
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006873.4(STON1):c.-47-9243G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.618 in 151,992 control chromosomes in the GnomAD database, including 29,431 homozygotes. 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
Genomes: 𝑓 0.62 ( 29431 hom., cov: 31)
Consequence
STON1
NM_006873.4 intron
NM_006873.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.09
Genes affected
STON1 (HGNC:17003): (stonin 1) Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.95).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.645 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STON1 | NM_006873.4 | c.-47-9243G>C | intron_variant | ENST00000404752.6 | |||
STON1-GTF2A1L | NM_001198593.2 | c.-47-9243G>C | intron_variant | ||||
STON1 | NM_001198595.2 | c.-47-9243G>C | intron_variant | ||||
STON1-GTF2A1L | NM_172311.3 | c.-48+2258G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STON1 | ENST00000404752.6 | c.-47-9243G>C | intron_variant | 1 | NM_006873.4 | P1 | |||
STON1 | ENST00000406226.1 | c.-47-9243G>C | intron_variant | 1 | P1 | ||||
STON1 | ENST00000649748.1 | c.-47-9243G>C | intron_variant | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.618 AC: 93884AN: 151876Hom.: 29408 Cov.: 31
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GnomAD4 genome ? AF: 0.618 AC: 93967AN: 151992Hom.: 29431 Cov.: 31 AF XY: 0.618 AC XY: 45895AN XY: 74294
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1641
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at