rs7114836

Positions:

• chr11-2207782-G-A
• chr11-2207782-G-C
• chr11-2207782-G-T

Variant summary

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

The variant allele was found at a frequency of 0.741 in 152,162 control chromosomes in the GnomAD database, including 42,557 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 0.74 (42557 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0740

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.87 is higher than 0.05.

Transcripts

RefSeq

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

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.741 AC: 112669 AN: 152044 Hom.: 42559 Cov.: 34

Gnomad AFR AF: 0.586

Gnomad AMI AF: 0.764

Gnomad AMR AF: 0.747

Gnomad ASJ AF: 0.770

Gnomad EAS AF: 0.891

Gnomad SAS AF: 0.776

Gnomad FIN AF: 0.747

Gnomad MID AF: 0.810

Gnomad NFE AF: 0.816

Gnomad OTH AF: 0.781

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

GnomAD4 genome AF: 0.741 AC: 112706 AN: 152162 Hom.: 42557 Cov.: 34 AF XY: 0.741 AC XY: 55139 AN XY: 74392

Gnomad4 AFR AF: 0.585

Gnomad4 AMR AF: 0.746

Gnomad4 ASJ AF: 0.770

Gnomad4 EAS AF: 0.892

Gnomad4 SAS AF: 0.776

Gnomad4 FIN AF: 0.747

Gnomad4 NFE AF: 0.816

Gnomad4 OTH AF: 0.783

Alfa AF: 0.792 Hom.: 11345

Bravo AF: 0.732

Asia WGS AF: 0.800 AC: 2781 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	2.1
DANN	Benign	0.56

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7114836; hg19: chr11-2229012;