rs7105037

Positions:

• chr11-35237644-A-C
• chr11-35237644-A-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 0.793 in 152,090 control chromosomes in the GnomAD database, including 48,442 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 0.79 (48442 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0190

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.908 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: 0.792 AC: 120422 AN: 151972 Hom.: 48381 Cov.: 32

Gnomad AFR AF: 0.916

Gnomad AMI AF: 0.722

Gnomad AMR AF: 0.818

Gnomad ASJ AF: 0.817

Gnomad EAS AF: 0.908

Gnomad SAS AF: 0.783

Gnomad FIN AF: 0.718

Gnomad MID AF: 0.842

Gnomad NFE AF: 0.714

Gnomad OTH AF: 0.791

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

GnomAD4 genome AF: 0.793 AC: 120546 AN: 152090 Hom.: 48442 Cov.: 32 AF XY: 0.796 AC XY: 59176 AN XY: 74320

Gnomad4 AFR AF: 0.916

Gnomad4 AMR AF: 0.818

Gnomad4 ASJ AF: 0.817

Gnomad4 EAS AF: 0.908

Gnomad4 SAS AF: 0.783

Gnomad4 FIN AF: 0.718

Gnomad4 NFE AF: 0.714

Gnomad4 OTH AF: 0.794

Alfa AF: 0.758 Hom.: 5509

Bravo AF: 0.806

Asia WGS AF: 0.847 AC: 2942 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	13
DANN	Benign	0.80

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7105037; hg19: chr11-35259191;