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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.737

Gnomad4 AMR AF: 0.427

Gnomad4 ASJ AF: 0.387

Gnomad4 EAS AF: 0.559

Gnomad4 SAS AF: 0.451

Gnomad4 FIN AF: 0.361

Gnomad4 NFE AF: 0.445

Gnomad4 OTH AF: 0.495

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1732045; hg19: chr7-134162467;