rs13245201

Variant names:

• chr7-128237691-G-A
• rs13245201

Your query was ambiguous. Multiple possible variants found:

• chr7-128237691-G-A
• chr7-128237691-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 0.374 in 152,100 control chromosomes in the GnomAD database, including 12,816 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 0.37 (12816 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.677

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.725 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: 0.374 AC: 56843 AN: 151982 Hom.: 12812 Cov.: 33

Gnomad AFR AF: 0.124

Gnomad AMI AF: 0.437

Gnomad AMR AF: 0.436

Gnomad ASJ AF: 0.418

Gnomad EAS AF: 0.744

Gnomad SAS AF: 0.524

Gnomad FIN AF: 0.509

Gnomad MID AF: 0.440

Gnomad NFE AF: 0.449

Gnomad OTH AF: 0.377

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

GnomAD4 genome AF: 0.374 AC: 56866 AN: 152100 Hom.: 12816 Cov.: 33 AF XY: 0.384 AC XY: 28573 AN XY: 74330

Gnomad4 AFR AF: 0.124

Gnomad4 AMR AF: 0.436

Gnomad4 ASJ AF: 0.418

Gnomad4 EAS AF: 0.745

Gnomad4 SAS AF: 0.525

Gnomad4 FIN AF: 0.509

Gnomad4 NFE AF: 0.449

Gnomad4 OTH AF: 0.381

Alfa AF: 0.391 Hom.: 1614

Bravo AF: 0.354

Asia WGS AF: 0.622 AC: 2160 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.12
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs13245201; hg19: chr7-127877744;