rs7196161

Variant names:

• chr16-31099660-G-A
• rs7196161

Your query was ambiguous. Multiple possible variants found:

• chr16-31099660-G-A
• chr16-31099660-G-C

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 0.583 in 150,720 control chromosomes in the GnomAD database, including 26,456 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 0.58 (26456 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.830
• Publications: 29 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.796 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.583 AC: 87778 AN: 150608 Hom.: 26422 Cov.: 27

Gnomad AFR AF: 0.545

Gnomad AMI AF: 0.518

Gnomad AMR AF: 0.579

Gnomad ASJ AF: 0.495

Gnomad EAS AF: 0.108

Gnomad SAS AF: 0.817

Gnomad FIN AF: 0.608

Gnomad MID AF: 0.456

Gnomad NFE AF: 0.629

Gnomad OTH AF: 0.545

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

GnomAD4 genome AF: 0.583 AC: 87868 AN: 150720 Hom.: 26456 Cov.: 27 AF XY: 0.585 AC XY: 42968 AN XY: 73486

African (AFR) AF: 0.546 AC: 22418 AN: 41072

American (AMR) AF: 0.579 AC: 8765 AN: 15136

Ashkenazi Jewish (ASJ) AF: 0.495 AC: 1715 AN: 3464

East Asian (EAS) AF: 0.108 AC: 543 AN: 5024

South Asian (SAS) AF: 0.818 AC: 3896 AN: 4764

European-Finnish (FIN) AF: 0.608 AC: 6227 AN: 10248

Middle Eastern (MID) AF: 0.446 AC: 131 AN: 294

European-Non Finnish (NFE) AF: 0.628 AC: 42556 AN: 67712

Other (OTH) AF: 0.547 AC: 1150 AN: 2104

Alfa AF: 0.608 Hom.: 3013

Bravo AF: 0.565

Asia WGS AF: 0.515 AC: 1789 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.1
DANN	Benign	0.37
PhyloP100		-0.83

Splicing

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

Other links and lift over

dbSNP: rs7196161; hg19: chr16-31110981;