rs7124327

Positions:

• chr11-35237192-A-C
• chr11-35237192-A-G
• chr11-35237192-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 0.791 in 152,146 control chromosomes in the GnomAD database, including 48,212 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 (48212 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.216

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 (AFR) allele frequency at 95% confidence interval = 0.903 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.791 AC: 120179 AN: 152028 Hom.: 48150 Cov.: 32

Gnomad AFR AF: 0.910

Gnomad AMI AF: 0.720

Gnomad AMR AF: 0.817

Gnomad ASJ AF: 0.817

Gnomad EAS AF: 0.909

Gnomad SAS AF: 0.782

Gnomad FIN AF: 0.717

Gnomad MID AF: 0.842

Gnomad NFE AF: 0.714

Gnomad OTH AF: 0.788

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

GnomAD4 genome AF: 0.791 AC: 120304 AN: 152146 Hom.: 48212 Cov.: 32 AF XY: 0.794 AC XY: 59084 AN XY: 74376

Gnomad4 AFR AF: 0.910

Gnomad4 AMR AF: 0.817

Gnomad4 ASJ AF: 0.817

Gnomad4 EAS AF: 0.909

Gnomad4 SAS AF: 0.783

Gnomad4 FIN AF: 0.717

Gnomad4 NFE AF: 0.714

Gnomad4 OTH AF: 0.791

Alfa AF: 0.658 Hom.: 1862

Bravo AF: 0.804

Asia WGS AF: 0.847 AC: 2943 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	2.6
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7124327; hg19: chr11-35258739;