rs1732045

Variant names:

• chr7-134477715-G-A
• rs1732045

Your query was ambiguous. Multiple possible variants found:

• chr7-134477715-G-A
• chr7-134477715-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 0.52 in 152,040 control chromosomes in the GnomAD database, including 22,073 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 0.52 (22073 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.612
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.73 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: 0.520 AC: 78945 AN: 151922 Hom.: 22032 Cov.: 32

Gnomad AFR AF: 0.737

Gnomad AMI AF: 0.384

Gnomad AMR AF: 0.428

Gnomad ASJ AF: 0.387

Gnomad EAS AF: 0.559

Gnomad SAS AF: 0.451

Gnomad FIN AF: 0.361

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.445

Gnomad OTH AF: 0.497

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

GnomAD4 genome AF: 0.520 AC: 79037 AN: 152040 Hom.: 22073 Cov.: 32 AF XY: 0.513 AC XY: 38124 AN XY: 74300

African (AFR) AF: 0.737 AC: 30569 AN: 41478

American (AMR) AF: 0.427 AC: 6523 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.387 AC: 1342 AN: 3464

East Asian (EAS) AF: 0.559 AC: 2888 AN: 5164

South Asian (SAS) AF: 0.451 AC: 2172 AN: 4816

European-Finnish (FIN) AF: 0.361 AC: 3813 AN: 10566

Middle Eastern (MID) AF: 0.378 AC: 111 AN: 294

European-Non Finnish (NFE) AF: 0.445 AC: 30225 AN: 67964

Other (OTH) AF: 0.495 AC: 1045 AN: 2110

Alfa AF: 0.305 Hom.: 650

Bravo AF: 0.537

Asia WGS AF: 0.503 AC: 1747 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.36
DANN	Benign	0.41
PhyloP100		-0.61

Splicing

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

Other links and lift over

dbSNP: rs1732045; hg19: chr7-134162467;