rs1730186

Variant names:

• chr7-155097474-A-G
• rs1730186

Your query was ambiguous. Multiple possible variants found:

• chr7-155097474-A-G
• chr7-155097474-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 0.683 in 151,304 control chromosomes in the GnomAD database, including 35,923 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 0.68 (35923 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.226
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.798 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: 0.683 AC: 103227 AN: 151186 Hom.: 35887 Cov.: 31

Gnomad AFR AF: 0.805

Gnomad AMI AF: 0.557

Gnomad AMR AF: 0.666

Gnomad ASJ AF: 0.648

Gnomad EAS AF: 0.622

Gnomad SAS AF: 0.639

Gnomad FIN AF: 0.579

Gnomad MID AF: 0.649

Gnomad NFE AF: 0.641

Gnomad OTH AF: 0.674

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

GnomAD4 genome AF: 0.683 AC: 103307 AN: 151304 Hom.: 35923 Cov.: 31 AF XY: 0.680 AC XY: 50281 AN XY: 73976

African (AFR) AF: 0.805 AC: 32883 AN: 40852

American (AMR) AF: 0.666 AC: 10152 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.648 AC: 2249 AN: 3472

East Asian (EAS) AF: 0.623 AC: 3197 AN: 5134

South Asian (SAS) AF: 0.639 AC: 3077 AN: 4816

European-Finnish (FIN) AF: 0.579 AC: 6092 AN: 10524

Middle Eastern (MID) AF: 0.633 AC: 186 AN: 294

European-Non Finnish (NFE) AF: 0.641 AC: 43562 AN: 67948

Other (OTH) AF: 0.666 AC: 1403 AN: 2106

Alfa AF: 0.652 Hom.: 86428

Bravo AF: 0.694

Asia WGS AF: 0.599 AC: 2085 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	8.8
DANN	Benign	0.82
PhyloP100		-0.23

Splicing

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

Other links and lift over

dbSNP: rs1730186; hg19: chr7-154889184;