rs7247032

Variant names:

• chr19-57068415-A-C
• rs7247032

Your query was ambiguous. Multiple possible variants found:

• chr19-57068415-A-C
• chr19-57068415-A-G

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 0.469 in 151,916 control chromosomes in the GnomAD database, including 18,206 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 (18206 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.53
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.67 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: 0.468 AC: 71113 AN: 151798 Hom.: 18147 Cov.: 31

Gnomad AFR AF: 0.676

Gnomad AMI AF: 0.289

Gnomad AMR AF: 0.465

Gnomad ASJ AF: 0.453

Gnomad EAS AF: 0.385

Gnomad SAS AF: 0.512

Gnomad FIN AF: 0.325

Gnomad MID AF: 0.487

Gnomad NFE AF: 0.372

Gnomad OTH AF: 0.451

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

GnomAD4 genome AF: 0.469 AC: 71237 AN: 151916 Hom.: 18206 Cov.: 31 AF XY: 0.468 AC XY: 34772 AN XY: 74238

African (AFR) AF: 0.677 AC: 28041 AN: 41436

American (AMR) AF: 0.465 AC: 7108 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.453 AC: 1571 AN: 3468

East Asian (EAS) AF: 0.386 AC: 1986 AN: 5148

South Asian (SAS) AF: 0.512 AC: 2463 AN: 4806

European-Finnish (FIN) AF: 0.325 AC: 3425 AN: 10528

Middle Eastern (MID) AF: 0.476 AC: 140 AN: 294

European-Non Finnish (NFE) AF: 0.372 AC: 25285 AN: 67944

Other (OTH) AF: 0.453 AC: 955 AN: 2108

Alfa AF: 0.400 Hom.: 21123

Bravo AF: 0.486

Asia WGS AF: 0.479 AC: 1665 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.5
DANN	Benign	0.50
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs7247032; hg19: chr19-57579783;