rs7981816

Variant names:

• chr13-72068705-A-G
• rs7981816

Your query was ambiguous. Multiple possible variants found:

• chr13-72068705-A-G
• chr13-72068705-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.213 in 151,900 control chromosomes in the GnomAD database, including 4,854 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 0.21 (4854 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0170
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.421 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: 0.212 AC: 32249 AN: 151782 Hom.: 4836 Cov.: 31

Gnomad AFR AF: 0.426

Gnomad AMI AF: 0.165

Gnomad AMR AF: 0.125

Gnomad ASJ AF: 0.128

Gnomad EAS AF: 0.198

Gnomad SAS AF: 0.272

Gnomad FIN AF: 0.0695

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.127

Gnomad OTH AF: 0.192

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

GnomAD4 genome AF: 0.213 AC: 32317 AN: 151900 Hom.: 4854 Cov.: 31 AF XY: 0.210 AC XY: 15605 AN XY: 74278

African (AFR) AF: 0.426 AC: 17641 AN: 41396

American (AMR) AF: 0.125 AC: 1898 AN: 15228

Ashkenazi Jewish (ASJ) AF: 0.128 AC: 445 AN: 3464

East Asian (EAS) AF: 0.197 AC: 1017 AN: 5150

South Asian (SAS) AF: 0.273 AC: 1313 AN: 4814

European-Finnish (FIN) AF: 0.0695 AC: 735 AN: 10582

Middle Eastern (MID) AF: 0.180 AC: 53 AN: 294

European-Non Finnish (NFE) AF: 0.127 AC: 8651 AN: 67954

Other (OTH) AF: 0.196 AC: 414 AN: 2108

Alfa AF: 0.154 Hom.: 10451

Bravo AF: 0.221

Asia WGS AF: 0.264 AC: 916 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	2.4
DANN	Benign	0.39
PhyloP100		-0.017

Splicing

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

Other links and lift over

dbSNP: rs7981816; hg19: chr13-72642843;