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. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.344 AC: 14211 AN: 41356

American (AMR) AF: 0.0724 AC: 1095 AN: 15134

Ashkenazi Jewish (ASJ) AF: 0.0381 AC: 132 AN: 3462

East Asian (EAS) AF: 0.0863 AC: 442 AN: 5122

South Asian (SAS) AF: 0.0573 AC: 276 AN: 4816

European-Finnish (FIN) AF: 0.0867 AC: 916 AN: 10566

Middle Eastern (MID) AF: 0.116 AC: 34 AN: 292

European-Non Finnish (NFE) AF: 0.0534 AC: 3616 AN: 67654

Other (OTH) AF: 0.111 AC: 233 AN: 2100

Alfa AF: 0.0760 Hom.: 2799

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
PhyloP100		0.79

Splicing

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

Other links and lift over

dbSNP: rs9971637; hg19: chr12-17373739;