rs7251505

Variant names:

• chr19-33311636-G-A
• rs7251505

Your query was ambiguous. Multiple possible variants found:

• chr19-33311636-G-A
• chr19-33311636-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 0.101 in 152,212 control chromosomes in the GnomAD database, including 961 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 0.10 (961 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.226

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.167 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: 0.101 AC: 15294 AN: 152094 Hom.: 958 Cov.: 32

Gnomad AFR AF: 0.170

Gnomad AMI AF: 0.0648

Gnomad AMR AF: 0.0751

Gnomad ASJ AF: 0.0902

Gnomad EAS AF: 0.000772

Gnomad SAS AF: 0.0213

Gnomad FIN AF: 0.0413

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.0877

Gnomad OTH AF: 0.0989

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

GnomAD4 genome AF: 0.101 AC: 15315 AN: 152212 Hom.: 961 Cov.: 32 AF XY: 0.0974 AC XY: 7253 AN XY: 74438

Gnomad4 AFR AF: 0.170

Gnomad4 AMR AF: 0.0749

Gnomad4 ASJ AF: 0.0902

Gnomad4 EAS AF: 0.000773

Gnomad4 SAS AF: 0.0224

Gnomad4 FIN AF: 0.0413

Gnomad4 NFE AF: 0.0877

Gnomad4 OTH AF: 0.0970

Alfa AF: 0.0733 Hom.: 252

Bravo AF: 0.106

Asia WGS AF: 0.0190 AC: 67 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.83
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7251505; hg19: chr19-33802542;