rs7536201

Variant names:

• chr1-24966593-T-C
• rs7536201

Your query was ambiguous. Multiple possible variants found:

• chr1-24966593-T-C
• chr1-24966593-T-G

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 0.48 in 150,518 control chromosomes in the GnomAD database, including 18,507 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 0.48 (18507 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.244

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.693 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: 0.480 AC: 72168 AN: 150394 Hom.: 18479 Cov.: 32

Gnomad AFR AF: 0.292

Gnomad AMI AF: 0.694

Gnomad AMR AF: 0.641

Gnomad ASJ AF: 0.512

Gnomad EAS AF: 0.713

Gnomad SAS AF: 0.675

Gnomad FIN AF: 0.589

Gnomad MID AF: 0.535

Gnomad NFE AF: 0.503

Gnomad OTH AF: 0.514

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

GnomAD4 genome AF: 0.480 AC: 72215 AN: 150518 Hom.: 18507 Cov.: 32 AF XY: 0.495 AC XY: 36423 AN XY: 73526

Gnomad4 AFR AF: 0.291

Gnomad4 AMR AF: 0.642

Gnomad4 ASJ AF: 0.512

Gnomad4 EAS AF: 0.712

Gnomad4 SAS AF: 0.675

Gnomad4 FIN AF: 0.589

Gnomad4 NFE AF: 0.503

Gnomad4 OTH AF: 0.519

Alfa AF: 0.279 Hom.: 643

Bravo AF: 0.472

Asia WGS AF: 0.691 AC: 2403 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.6
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7536201; hg19: chr1-25293084;