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. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.428 AC: 17726 AN: 41442

American (AMR) AF: 0.459 AC: 7011 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.509 AC: 1765 AN: 3468

East Asian (EAS) AF: 0.288 AC: 1487 AN: 5168

South Asian (SAS) AF: 0.480 AC: 2313 AN: 4820

European-Finnish (FIN) AF: 0.557 AC: 5878 AN: 10558

Middle Eastern (MID) AF: 0.537 AC: 158 AN: 294

European-Non Finnish (NFE) AF: 0.504 AC: 34263 AN: 67966

Other (OTH) AF: 0.479 AC: 1008 AN: 2104

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.1
DANN	Benign	0.46
PhyloP100		0.64

Splicing

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

Other links and lift over

dbSNP: rs7632370; hg19: chr3-145497500;