chr20-46724875-C-CGGACGGAT

Position:

• chr20-46724875-C-CGGACGGAT

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BS1 BS2

The NM_030777.4(SLC2A10):​c.5-163_5-162insCGGATGGA variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Likely benign (★).

• Frequency: Genomes: 𝑓 0.0029 (3 hom., cov: 0)
• Consequence: SLC2A10 NM_030777.4 intron
• Clinical Significance: Likely 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-CGGACGGAT is Benign according to our data. Variant chr20-46724875-C-CGGACGGAT is described in ClinVar as [Likely_benign]. Clinvar id is 1212798.Status of the report is criteria_provided_single_submitter, 1 stars.
• BS1: Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00287 (401/139876) while in subpopulation AFR AF= 0.0105 (381/36292). AF 95% confidence interval is 0.00963. There are 3 homozygotes in gnomad4. There are 186 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
• BS2: High Homozygotes in GnomAd4 at 3 AR gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC2A10	NM_030777.4	c.5-163_5-162insCGGATGGA		intron_variant		ENST00000359271.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC2A10	ENST00000359271.4	c.5-163_5-162insCGGATGGA		intron_variant		1	NM_030777.4	P1
SLC2A10	ENST00000611837.1	n.157-163_157-162insCGGATGGA		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.00287 AC: 401 AN: 139760 Hom.: 3 Cov.: 0

Gnomad AFR AF: 0.0105

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000349

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000223

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.000112

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000153

Gnomad OTH AF: 0.00156

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

GnomAD4 genome AF: 0.00287 AC: 401 AN: 139876 Hom.: 3 Cov.: 0 AF XY: 0.00274 AC XY: 186 AN XY: 67814

Gnomad4 AFR AF: 0.0105

Gnomad4 AMR AF: 0.000349

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.000223

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.000112

Gnomad4 NFE AF: 0.000153

Gnomad4 OTH AF: 0.00154

ClinVar

Significance: Likely benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Likely benign, criteria provided, single submitter

clinical testing

GeneDx

Sep 21, 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: rs1555887757; hg19: chr20-45353514;