rs7632370

Variant names:

• chr3-145779713-T-A
• rs7632370

Your query was ambiguous. Multiple possible variants found:

• chr3-145779713-T-A
• chr3-145779713-T-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 0.474 in 151,992 control chromosomes in the GnomAD database, including 17,257 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 0.47 (17257 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.637

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.5 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: 0.474 AC: 72039 AN: 151874 Hom.: 17249 Cov.: 32

Gnomad AFR AF: 0.428

Gnomad AMI AF: 0.501

Gnomad AMR AF: 0.460

Gnomad ASJ AF: 0.509

Gnomad EAS AF: 0.289

Gnomad SAS AF: 0.481

Gnomad FIN AF: 0.557

Gnomad MID AF: 0.528

Gnomad NFE AF: 0.504

Gnomad OTH AF: 0.476

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

GnomAD4 genome AF: 0.474 AC: 72066 AN: 151992 Hom.: 17257 Cov.: 32 AF XY: 0.476 AC XY: 35358 AN XY: 74262

Gnomad4 AFR AF: 0.428

Gnomad4 AMR AF: 0.459

Gnomad4 ASJ AF: 0.509

Gnomad4 EAS AF: 0.288

Gnomad4 SAS AF: 0.480

Gnomad4 FIN AF: 0.557

Gnomad4 NFE AF: 0.504

Gnomad4 OTH AF: 0.479

Alfa AF: 0.497 Hom.: 2312

Bravo AF: 0.465

Asia WGS AF: 0.406 AC: 1414 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.1
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7632370; hg19: chr3-145497500;