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. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• 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

African (AFR) AF: 0.934 AC: 38766 AN: 41514

American (AMR) AF: 0.773 AC: 11789 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.737 AC: 2552 AN: 3464

East Asian (EAS) AF: 0.932 AC: 4809 AN: 5162

South Asian (SAS) AF: 0.712 AC: 3434 AN: 4824

European-Finnish (FIN) AF: 0.724 AC: 7645 AN: 10566

Middle Eastern (MID) AF: 0.793 AC: 233 AN: 294

European-Non Finnish (NFE) AF: 0.693 AC: 47097 AN: 67934

Other (OTH) AF: 0.769 AC: 1614 AN: 2100

Alfa AF: 0.744 Hom.: 12349

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
PhyloP100		-0.36

Splicing

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

Other links and lift over

dbSNP: rs356262; hg19: chr11-127439238;