rs11230775

Variant names:

• chr11-61671062-T-A
• rs11230775

Your query was ambiguous. Multiple possible variants found:

• chr11-61671062-T-A
• chr11-61671062-T-G

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 0.398 in 151,992 control chromosomes in the GnomAD database, including 13,432 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 0.40 (13432 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.775
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.488 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: 0.398 AC: 60471 AN: 151874 Hom.: 13427 Cov.: 31

Gnomad AFR AF: 0.195

Gnomad AMI AF: 0.524

Gnomad AMR AF: 0.489

Gnomad ASJ AF: 0.538

Gnomad EAS AF: 0.217

Gnomad SAS AF: 0.475

Gnomad FIN AF: 0.447

Gnomad MID AF: 0.408

Gnomad NFE AF: 0.493

Gnomad OTH AF: 0.427

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

GnomAD4 genome AF: 0.398 AC: 60499 AN: 151992 Hom.: 13432 Cov.: 31 AF XY: 0.400 AC XY: 29676 AN XY: 74282

African (AFR) AF: 0.194 AC: 8057 AN: 41470

American (AMR) AF: 0.490 AC: 7472 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.538 AC: 1866 AN: 3470

East Asian (EAS) AF: 0.217 AC: 1123 AN: 5164

South Asian (SAS) AF: 0.475 AC: 2288 AN: 4814

European-Finnish (FIN) AF: 0.447 AC: 4720 AN: 10552

Middle Eastern (MID) AF: 0.408 AC: 120 AN: 294

European-Non Finnish (NFE) AF: 0.493 AC: 33477 AN: 67960

Other (OTH) AF: 0.427 AC: 902 AN: 2114

Alfa AF: 0.432 Hom.: 1866

Bravo AF: 0.393

Asia WGS AF: 0.367 AC: 1276 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.61
DANN	Benign	0.63
PhyloP100		-0.78

Splicing

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

Other links and lift over

dbSNP: rs11230775; hg19: chr11-61438534;