rs7194355

Variant names:

• chr16-68736385-C-A
• rs7194355

Your query was ambiguous. Multiple possible variants found:

• chr16-68736385-C-A
• chr16-68736385-C-G

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 0.252 in 152,052 control chromosomes in the GnomAD database, including 5,027 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 0.25 (5027 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.37
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.284 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: 0.252 AC: 38315 AN: 151932 Hom.: 5027 Cov.: 31

Gnomad AFR AF: 0.172

Gnomad AMI AF: 0.275

Gnomad AMR AF: 0.292

Gnomad ASJ AF: 0.396

Gnomad EAS AF: 0.278

Gnomad SAS AF: 0.253

Gnomad FIN AF: 0.238

Gnomad MID AF: 0.245

Gnomad NFE AF: 0.284

Gnomad OTH AF: 0.264

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

GnomAD4 genome AF: 0.252 AC: 38317 AN: 152052 Hom.: 5027 Cov.: 31 AF XY: 0.252 AC XY: 18710 AN XY: 74318

African (AFR) AF: 0.172 AC: 7131 AN: 41506

American (AMR) AF: 0.291 AC: 4453 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.396 AC: 1373 AN: 3468

East Asian (EAS) AF: 0.278 AC: 1435 AN: 5158

South Asian (SAS) AF: 0.254 AC: 1218 AN: 4804

European-Finnish (FIN) AF: 0.238 AC: 2520 AN: 10584

Middle Eastern (MID) AF: 0.248 AC: 73 AN: 294

European-Non Finnish (NFE) AF: 0.284 AC: 19314 AN: 67940

Other (OTH) AF: 0.260 AC: 549 AN: 2108

Alfa AF: 0.441 Hom.: 3929

Bravo AF: 0.251

Asia WGS AF: 0.292 AC: 1015 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	4.2
DANN	Benign	0.71
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs7194355; hg19: chr16-68770288;