chr20-46724875-C-CGGATGGATGGATGGAT

Position:

• chr20-46724875-C-CGGATGGATGGATGGAT

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_030777.4(SLC2A10):​c.5-151_5-136dup variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.052 (298 hom., cov: 0)
• Consequence: SLC2A10 NM_030777.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• 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]

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 20-46724875-C-CGGATGGATGGATGGAT is Benign according to our data. Variant chr20-46724875-C-CGGATGGATGGATGGAT is described in ClinVar as [Benign]. Clinvar id is 1241818.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.103 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC2A10	NM_030777.4	c.5-151_5-136dup		intron_variant		ENST00000359271.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC2A10	ENST00000359271.4	c.5-151_5-136dup		intron_variant		1	NM_030777.4	P1
SLC2A10	ENST00000611837.1	n.157-151_157-136dup		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.0518 AC: 7228 AN: 139616 Hom.: 295 Cov.: 0

Gnomad AFR AF: 0.0753

Gnomad AMI AF: 0.0359

Gnomad AMR AF: 0.0270

Gnomad ASJ AF: 0.0378

Gnomad EAS AF: 0.0727

Gnomad SAS AF: 0.111

Gnomad FIN AF: 0.0536

Gnomad MID AF: 0.0483

Gnomad NFE AF: 0.0398

Gnomad OTH AF: 0.0498

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0518 AC: 7243 AN: 139732 Hom.: 298 Cov.: 0 AF XY: 0.0519 AC XY: 3518 AN XY: 67756

Gnomad4 AFR AF: 0.0751

Gnomad4 AMR AF: 0.0274

Gnomad4 ASJ AF: 0.0378

Gnomad4 EAS AF: 0.0729

Gnomad4 SAS AF: 0.111

Gnomad4 FIN AF: 0.0536

Gnomad4 NFE AF: 0.0398

Gnomad4 OTH AF: 0.0533

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Aug 10, 2019

- -

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs3092014; hg19: chr20-45353514;