rs7232770

Variant names:

• chr18-40607847-G-A
• rs7232770

Your query was ambiguous. Multiple possible variants found:

• chr18-40607847-G-A
• chr18-40607847-G-C
• chr18-40607847-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 0.36 in 151,964 control chromosomes in the GnomAD database, including 10,895 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 0.36 (10895 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.870
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.54).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.719 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.360 AC: 54722 AN: 151846 Hom.: 10889 Cov.: 32

Gnomad AFR AF: 0.233

Gnomad AMI AF: 0.467

Gnomad AMR AF: 0.437

Gnomad ASJ AF: 0.320

Gnomad EAS AF: 0.739

Gnomad SAS AF: 0.627

Gnomad FIN AF: 0.399

Gnomad MID AF: 0.380

Gnomad NFE AF: 0.368

Gnomad OTH AF: 0.366

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

GnomAD4 genome AF: 0.360 AC: 54755 AN: 151964 Hom.: 10895 Cov.: 32 AF XY: 0.372 AC XY: 27622 AN XY: 74266

African (AFR) AF: 0.233 AC: 9661 AN: 41482

American (AMR) AF: 0.436 AC: 6652 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.320 AC: 1107 AN: 3464

East Asian (EAS) AF: 0.739 AC: 3811 AN: 5160

South Asian (SAS) AF: 0.627 AC: 3020 AN: 4818

European-Finnish (FIN) AF: 0.399 AC: 4205 AN: 10542

Middle Eastern (MID) AF: 0.384 AC: 113 AN: 294

European-Non Finnish (NFE) AF: 0.368 AC: 24976 AN: 67926

Other (OTH) AF: 0.372 AC: 785 AN: 2110

Alfa AF: 0.344 Hom.: 1575

Bravo AF: 0.354

Asia WGS AF: 0.701 AC: 2438 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.54
CADD	Benign	10
DANN	Benign	0.49
PhyloP100		0.87

Splicing

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

Other links and lift over

dbSNP: rs7232770; hg19: chr18-38187811;