rs7124327

Variant names:

• chr11-35237192-A-C
• rs7124327

Your query was ambiguous. Multiple possible variants found:

• chr11-35237192-A-C
• chr11-35237192-A-G
• chr11-35237192-A-T

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.910 AC: 37805 AN: 41530

American (AMR) AF: 0.817 AC: 12490 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.817 AC: 2834 AN: 3470

East Asian (EAS) AF: 0.909 AC: 4698 AN: 5168

South Asian (SAS) AF: 0.783 AC: 3774 AN: 4822

European-Finnish (FIN) AF: 0.717 AC: 7582 AN: 10574

Middle Eastern (MID) AF: 0.844 AC: 248 AN: 294

European-Non Finnish (NFE) AF: 0.714 AC: 48551 AN: 67980

Other (OTH) AF: 0.791 AC: 1668 AN: 2110

Alfa AF: 0.682 Hom.: 2193

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
PhyloP100		-0.22

Splicing

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

Other links and lift over

dbSNP: rs7124327; hg19: chr11-35258739;