SLC2A6 p.Pro270Pro

Variant names:

• chr9-133475077-G-G
• NM_017585.4:c.

Your query was ambiguous. Multiple possible variants found:

• chr9-133475078--
• chr9-133475078-T-A
• chr9-133475078-T-G
• chr9-133475078-T-C

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_017585.4(SLC2A6):​c. variant causes a exon region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 36)
• Consequence: SLC2A6 NM_017585.4 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.879
• Publications: 0 publications found

Genes affected

SLC2A6 (HGNC:11011): (solute carrier family 2 member 6) Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002]

SLC2A6 Gene-Disease associations (from GenCC):

• cardiomyopathy

  Inheritance: AD Classification: LIMITED Submitted by: Ambry Genetics

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_017585.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC2A6	NM_017585.4	MANE Select	c.		exon_region	Exon 6 of 10	NP_060055.2	Q9UGQ3-1
	SLC2A6	NM_001145099.2		c.		exon_region	Exon 6 of 9	NP_001138571.1	Q9UGQ3-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC2A6	ENST00000371899.9	TSL:1 MANE Select	c.		exon_region	Exon 6 of 10	ENSP00000360966.4	Q9UGQ3-1
	SLC2A6	ENST00000917280.1		c.		exon_region	Exon 6 of 10	ENSP00000587339.1
	SLC2A6	ENST00000949324.1		c.		exon_region	Exon 6 of 10	ENSP00000619383.1

Frequencies

GnomAD3 genomes Cov.: 36

GnomAD4 exome Cov.: 64

GnomAD4 genome Cov.: 36

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.88

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chr9-136340199;