rs2177188

Variant names:

• chr7-150566673-G-A
• rs2177188

Your query was ambiguous. Multiple possible variants found:

• chr7-150566673-G-A
• chr7-150566673-G-C

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 0.228 in 151,964 control chromosomes in the GnomAD database, including 4,808 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 0.23 (4808 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.309
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.386 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.228 AC: 34568 AN: 151846 Hom.: 4804 Cov.: 31

Gnomad AFR AF: 0.391

Gnomad AMI AF: 0.184

Gnomad AMR AF: 0.167

Gnomad ASJ AF: 0.0978

Gnomad EAS AF: 0.255

Gnomad SAS AF: 0.148

Gnomad FIN AF: 0.187

Gnomad MID AF: 0.180

Gnomad NFE AF: 0.159

Gnomad OTH AF: 0.224

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

GnomAD4 genome AF: 0.228 AC: 34609 AN: 151964 Hom.: 4808 Cov.: 31 AF XY: 0.227 AC XY: 16832 AN XY: 74258

African (AFR) AF: 0.391 AC: 16199 AN: 41392

American (AMR) AF: 0.167 AC: 2550 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.0978 AC: 339 AN: 3468

East Asian (EAS) AF: 0.255 AC: 1315 AN: 5160

South Asian (SAS) AF: 0.147 AC: 710 AN: 4818

European-Finnish (FIN) AF: 0.187 AC: 1972 AN: 10540

Middle Eastern (MID) AF: 0.187 AC: 55 AN: 294

European-Non Finnish (NFE) AF: 0.159 AC: 10826 AN: 67986

Other (OTH) AF: 0.224 AC: 475 AN: 2116

Alfa AF: 0.165 Hom.: 3992

Bravo AF: 0.233

Asia WGS AF: 0.237 AC: 828 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.2
DANN	Benign	0.43
PhyloP100		0.31

Splicing

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

Other links and lift over

dbSNP: rs2177188; hg19: chr7-150263761;