rs7105037

Variant names:

• chr11-35237644-A-C
• rs7105037

Your query was ambiguous. Multiple possible variants found:

• 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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;