rs10790212

Positions:

• chr11-117831975-C-T

Variant summary

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

The NM_001243598.4(FXYD6-FXYD2):​c.272+7806G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.33 in 152,152 control chromosomes in the GnomAD database, including 9,514 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 0.33 (9514 hom., cov: 33)
• Consequence: FXYD6-FXYD2 NM_001243598.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.157

Genes affected

FXYD6-FXYD2 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.516 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
FXYD6-FXYD2	NM_001243598.4	c.272+7806G>A		intron_variant			NP_001230527.1
FXYD6-FXYD2	NM_001204268.3	c.259+7806G>A		intron_variant			NP_001191197.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.330 AC: 50148 AN: 152034 Hom.: 9489 Cov.: 33

Gnomad AFR AF: 0.522

Gnomad AMI AF: 0.203

Gnomad AMR AF: 0.334

Gnomad ASJ AF: 0.303

Gnomad EAS AF: 0.156

Gnomad SAS AF: 0.232

Gnomad FIN AF: 0.195

Gnomad MID AF: 0.332

Gnomad NFE AF: 0.257

Gnomad OTH AF: 0.304

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

GnomAD4 genome AF: 0.330 AC: 50220 AN: 152152 Hom.: 9514 Cov.: 33 AF XY: 0.322 AC XY: 23983 AN XY: 74402

Gnomad4 AFR AF: 0.522

Gnomad4 AMR AF: 0.335

Gnomad4 ASJ AF: 0.303

Gnomad4 EAS AF: 0.156

Gnomad4 SAS AF: 0.232

Gnomad4 FIN AF: 0.195

Gnomad4 NFE AF: 0.257

Gnomad4 OTH AF: 0.302

Alfa AF: 0.281 Hom.: 8428

Bravo AF: 0.353

Asia WGS AF: 0.227 AC: 791 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	3.4
DANN	Benign	0.74

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: rs10790212; hg19: chr11-117702690;