rs7194886

Variant names:

• chr16-50691282-C-T
• rs7194886

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 0.373 in 152,064 control chromosomes in the GnomAD database, including 11,252 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 0.37 (11252 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0640
• Publications: 35 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.434 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: 0.374 AC: 56794 AN: 151946 Hom.: 11259 Cov.: 33

Gnomad AFR AF: 0.289

Gnomad AMI AF: 0.433

Gnomad AMR AF: 0.329

Gnomad ASJ AF: 0.533

Gnomad EAS AF: 0.118

Gnomad SAS AF: 0.231

Gnomad FIN AF: 0.493

Gnomad MID AF: 0.358

Gnomad NFE AF: 0.438

Gnomad OTH AF: 0.360

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

GnomAD4 genome AF: 0.373 AC: 56792 AN: 152064 Hom.: 11252 Cov.: 33 AF XY: 0.371 AC XY: 27583 AN XY: 74346

African (AFR) AF: 0.289 AC: 11977 AN: 41464

American (AMR) AF: 0.329 AC: 5030 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.533 AC: 1848 AN: 3470

East Asian (EAS) AF: 0.118 AC: 613 AN: 5182

South Asian (SAS) AF: 0.231 AC: 1110 AN: 4810

European-Finnish (FIN) AF: 0.493 AC: 5213 AN: 10572

Middle Eastern (MID) AF: 0.361 AC: 106 AN: 294

European-Non Finnish (NFE) AF: 0.438 AC: 29750 AN: 67966

Other (OTH) AF: 0.355 AC: 750 AN: 2110

Alfa AF: 0.409 Hom.: 42888

Bravo AF: 0.357

Asia WGS AF: 0.167 AC: 579 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.6
DANN	Benign	0.42
PhyloP100		0.064

Splicing

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

Other links and lift over

dbSNP: rs7194886; hg19: chr16-50725193; COSMIC: COSV73177564;