rs11216573

chr11-117832217-G-A

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+7564C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0205 in 152,302 control chromosomes in the GnomAD database, including 210 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 0.021 (210 hom., cov: 33)
• Consequence: FXYD6-FXYD2 NM_001243598.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.231

Genes affected

FXYD6-FXYD2 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.179 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
FXYD6-FXYD2	NM_001243598.4	c.272+7564C>T		intron_variant
FXYD6-FXYD2	NM_001204268.3	c.259+7564C>T		intron_variant

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.0205 AC: 3124 AN: 152184 Hom.: 211 Cov.: 33

Gnomad AFR AF: 0.00393

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0799

Gnomad ASJ AF: 0.00576

Gnomad EAS AF: 0.189

Gnomad SAS AF: 0.114

Gnomad FIN AF: 0.00584

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00125

Gnomad OTH AF: 0.0201

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

GnomAD4 genome AF: 0.0205 AC: 3129 AN: 152302 Hom.: 210 Cov.: 33 AF XY: 0.0248 AC XY: 1850 AN XY: 74472

Gnomad4 AFR AF: 0.00392

Gnomad4 AMR AF: 0.0798

Gnomad4 ASJ AF: 0.00576

Gnomad4 EAS AF: 0.189

Gnomad4 SAS AF: 0.114

Gnomad4 FIN AF: 0.00584

Gnomad4 NFE AF: 0.00125

Gnomad4 OTH AF: 0.0222

Alfa AF: 0.0208 Hom.: 20

Bravo AF: 0.0239

Asia WGS AF: 0.123 AC: 426 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	0.39
Dann	Benign	0.46

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: rs11216573; hg19: chr11-117702932;