rs7186262

Variant names:

• chr16-50653048-C-T
• rs7186262

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 0.683 in 152,046 control chromosomes in the GnomAD database, including 35,950 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 0.68 (35950 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0470
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.699 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: 0.683 AC: 103778 AN: 151926 Hom.: 35938 Cov.: 32

Gnomad AFR AF: 0.702

Gnomad AMI AF: 0.789

Gnomad AMR AF: 0.591

Gnomad ASJ AF: 0.700

Gnomad EAS AF: 0.530

Gnomad SAS AF: 0.473

Gnomad FIN AF: 0.765

Gnomad MID AF: 0.674

Gnomad NFE AF: 0.705

Gnomad OTH AF: 0.661

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

GnomAD4 genome AF: 0.683 AC: 103829 AN: 152046 Hom.: 35950 Cov.: 32 AF XY: 0.680 AC XY: 50510 AN XY: 74314

African (AFR) AF: 0.701 AC: 29066 AN: 41448

American (AMR) AF: 0.590 AC: 9018 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.700 AC: 2429 AN: 3468

East Asian (EAS) AF: 0.531 AC: 2746 AN: 5174

South Asian (SAS) AF: 0.474 AC: 2280 AN: 4812

European-Finnish (FIN) AF: 0.765 AC: 8082 AN: 10558

Middle Eastern (MID) AF: 0.667 AC: 196 AN: 294

European-Non Finnish (NFE) AF: 0.705 AC: 47902 AN: 67994

Other (OTH) AF: 0.658 AC: 1392 AN: 2114

Alfa AF: 0.687 Hom.: 69528

Bravo AF: 0.672

Asia WGS AF: 0.512 AC: 1781 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	1.9
DANN	Benign	0.70
PhyloP100		-0.047

Splicing

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

Other links and lift over

dbSNP: rs7186262; hg19: chr16-50686959;