rs9971637

Variant names:

• chr12-17220805-G-A
• rs9971637

Your query was ambiguous. Multiple possible variants found:

• chr12-17220805-G-A
• chr12-17220805-G-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.139 in 151,412 control chromosomes in the GnomAD database, including 2,659 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 0.14 (2659 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.787

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.3).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.339 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: 0.138 AC: 20929 AN: 151292 Hom.: 2634 Cov.: 32

Gnomad AFR AF: 0.343

Gnomad AMI AF: 0.0374

Gnomad AMR AF: 0.0726

Gnomad ASJ AF: 0.0381

Gnomad EAS AF: 0.0865

Gnomad SAS AF: 0.0577

Gnomad FIN AF: 0.0867

Gnomad MID AF: 0.121

Gnomad NFE AF: 0.0534

Gnomad OTH AF: 0.113

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

GnomAD4 genome AF: 0.139 AC: 20989 AN: 151412 Hom.: 2659 Cov.: 32 AF XY: 0.138 AC XY: 10195 AN XY: 73970

Gnomad4 AFR AF: 0.344

Gnomad4 AMR AF: 0.0724

Gnomad4 ASJ AF: 0.0381

Gnomad4 EAS AF: 0.0863

Gnomad4 SAS AF: 0.0573

Gnomad4 FIN AF: 0.0867

Gnomad4 NFE AF: 0.0534

Gnomad4 OTH AF: 0.111

Alfa AF: 0.0611 Hom.: 563

Bravo AF: 0.145

Asia WGS AF: 0.100 AC: 349 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.30
CADD	Benign	14
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9971637; hg19: chr12-17373739;