rs1237230

Variant names:

• chr11-85944062-A-C
• rs1237230

Your query was ambiguous. Multiple possible variants found:

• chr11-85944062-A-C
• chr11-85944062-A-G
• chr11-85944062-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 0.82 in 152,128 control chromosomes in the GnomAD database, including 51,283 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 0.82 (51283 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.764
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.882 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: 0.820 AC: 124583 AN: 152010 Hom.: 51242 Cov.: 32

Gnomad AFR AF: 0.889

Gnomad AMI AF: 0.649

Gnomad AMR AF: 0.782

Gnomad ASJ AF: 0.750

Gnomad EAS AF: 0.713

Gnomad SAS AF: 0.733

Gnomad FIN AF: 0.824

Gnomad MID AF: 0.725

Gnomad NFE AF: 0.806

Gnomad OTH AF: 0.796

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

GnomAD4 genome AF: 0.820 AC: 124681 AN: 152128 Hom.: 51283 Cov.: 32 AF XY: 0.816 AC XY: 60693 AN XY: 74386

African (AFR) AF: 0.889 AC: 36937 AN: 41534

American (AMR) AF: 0.781 AC: 11941 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.750 AC: 2605 AN: 3472

East Asian (EAS) AF: 0.712 AC: 3674 AN: 5158

South Asian (SAS) AF: 0.734 AC: 3532 AN: 4814

European-Finnish (FIN) AF: 0.824 AC: 8727 AN: 10594

Middle Eastern (MID) AF: 0.738 AC: 217 AN: 294

European-Non Finnish (NFE) AF: 0.806 AC: 54785 AN: 67956

Other (OTH) AF: 0.793 AC: 1671 AN: 2106

Alfa AF: 0.820 Hom.: 5974

Bravo AF: 0.818

Asia WGS AF: 0.709 AC: 2469 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	4.5
DANN	Benign	0.68
PhyloP100		-0.76

Splicing

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

Other links and lift over

dbSNP: rs1237230; hg19: chr11-85655105;