rs12509955
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000309065.7(SLC2A9):c.63+3225A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,004 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 0.0000066 ( 0 hom., cov: 33)
Consequence
SLC2A9
ENST00000309065.7 intron
ENST00000309065.7 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.638
Genes affected
SLC2A9 (HGNC:13446): (solute carrier family 2 member 9) This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC2A9 | NM_001001290.2 | c.63+3225A>T | intron_variant | ||||
SLC2A9 | XM_011513858.2 | c.63+3225A>T | intron_variant | ||||
SLC2A9 | XM_047415973.1 | c.63+3225A>T | intron_variant | ||||
SLC2A9 | XM_047415975.1 | c.63+3225A>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC2A9 | ENST00000309065.7 | c.63+3225A>T | intron_variant | 1 | P2 | ||||
SLC2A9 | ENST00000505104.5 | n.184+3225A>T | intron_variant, non_coding_transcript_variant | 1 | |||||
SLC2A9 | ENST00000506583.5 | c.63+3225A>T | intron_variant | 5 | P2 | ||||
SLC2A9 | ENST00000513129.1 | c.63+3225A>T | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152004Hom.: 0 Cov.: 33
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GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152004Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74264
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at