rs8066857

Positions:

• chr17-72699964-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_139177.4(SLC39A11):​c.671+36686G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.255 in 149,344 control chromosomes in the GnomAD database, including 5,705 homozygotes. 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 0.25 (5705 hom., cov: 32)
• Consequence: SLC39A11 NM_139177.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0440

Genes affected

SLC39A11 (HGNC:14463): (solute carrier family 39 member 11) Predicted to enable zinc ion transmembrane transporter activity. Predicted to be involved in zinc ion transmembrane transport. Predicted to be located in Golgi apparatus; nucleus; and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.362 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC39A11	NM_139177.4	c.671+36686G>A		intron_variant		ENST00000255559.8	NP_631916.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC39A11	ENST00000255559.8	c.671+36686G>A		intron_variant		1	NM_139177.4	ENSP00000255559	P4
SLC39A11	ENST00000542342.6	c.692+36686G>A		intron_variant		2		ENSP00000445829	A1
SLC39A11	ENST00000582769.5	c.419+36686G>A		intron_variant		5		ENSP00000463467
SLC39A11	ENST00000579988.1	n.98+25553G>A		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes AF: 0.255 AC: 38041 AN: 149228 Hom.: 5695 Cov.: 32

Gnomad AFR AF: 0.367

Gnomad AMI AF: 0.0741

Gnomad AMR AF: 0.187

Gnomad ASJ AF: 0.241

Gnomad EAS AF: 0.355

Gnomad SAS AF: 0.345

Gnomad FIN AF: 0.274

Gnomad MID AF: 0.209

Gnomad NFE AF: 0.188

Gnomad OTH AF: 0.251

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

GnomAD4 genome AF: 0.255 AC: 38052 AN: 149344 Hom.: 5705 Cov.: 32 AF XY: 0.259 AC XY: 18903 AN XY: 73004

Gnomad4 AFR AF: 0.367

Gnomad4 AMR AF: 0.187

Gnomad4 ASJ AF: 0.241

Gnomad4 EAS AF: 0.355

Gnomad4 SAS AF: 0.343

Gnomad4 FIN AF: 0.274

Gnomad4 NFE AF: 0.188

Gnomad4 OTH AF: 0.252

Alfa AF: 0.212 Hom.: 7720

Bravo AF: 0.260

Asia WGS AF: 0.353 AC: 1229 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	5.1
DANN	Benign	0.57

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs8066857; hg19: chr17-70696103;