20-46724875-C-CGGATGGAT
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_030777.4(SLC2A10):c.5-143_5-136dupATGGATGG variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.80 ( 45595 hom., cov: 0)
Consequence
SLC2A10
NM_030777.4 intron
NM_030777.4 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.234
Genes affected
SLC2A10 (HGNC:13444): (solute carrier family 2 member 10) This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
Variant 20-46724875-C-CGGATGGAT is Benign according to our data. Variant chr20-46724875-C-CGGATGGAT is described in ClinVar as [Benign]. Clinvar id is 1280280.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.888 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.795 AC: 111052AN: 139612Hom.: 45577 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.795 AC: 111109AN: 139726Hom.: 45595 Cov.: 0 AF XY: 0.795 AC XY: 53863AN XY: 67728
GnomAD4 genome
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53863
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67728
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 14, 2019 | - - |
Computational scores
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Name
Calibrated prediction
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at