rs356262

Variant names:

• chr11-127569343-G-A
• rs356262

Your query was ambiguous. Multiple possible variants found:

• chr11-127569343-G-A
• chr11-127569343-G-C
• chr11-127569343-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 0.781 in 152,022 control chromosomes in the GnomAD database, including 47,218 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 0.78 (47218 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.357

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.926 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: 0.780 AC: 118555 AN: 151904 Hom.: 47166 Cov.: 33

Gnomad AFR AF: 0.934

Gnomad AMI AF: 0.802

Gnomad AMR AF: 0.773

Gnomad ASJ AF: 0.737

Gnomad EAS AF: 0.932

Gnomad SAS AF: 0.713

Gnomad FIN AF: 0.724

Gnomad MID AF: 0.782

Gnomad NFE AF: 0.693

Gnomad OTH AF: 0.769

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

GnomAD4 genome AF: 0.781 AC: 118670 AN: 152022 Hom.: 47218 Cov.: 33 AF XY: 0.783 AC XY: 58206 AN XY: 74306

Gnomad4 AFR AF: 0.934

Gnomad4 AMR AF: 0.773

Gnomad4 ASJ AF: 0.737

Gnomad4 EAS AF: 0.932

Gnomad4 SAS AF: 0.712

Gnomad4 FIN AF: 0.724

Gnomad4 NFE AF: 0.693

Gnomad4 OTH AF: 0.769

Alfa AF: 0.734 Hom.: 5152

Bravo AF: 0.795

Asia WGS AF: 0.805 AC: 2798 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.94
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs356262; hg19: chr11-127439238;