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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.228 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

Gnomad4 AFR AF: 0.391

Gnomad4 AMR AF: 0.167

Gnomad4 ASJ AF: 0.0978

Gnomad4 EAS AF: 0.255

Gnomad4 SAS AF: 0.147

Gnomad4 FIN AF: 0.187

Gnomad4 NFE AF: 0.159

Gnomad4 OTH AF: 0.224

Alfa AF: 0.155 Hom.: 2673

Bravo AF: 0.233

Asia WGS AF: 0.237 AC: 828 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2177188; hg19: chr7-150263761;