rs7195127

Variant names:

• chr16-51096222-A-G
• rs7195127

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.116 in 152,158 control chromosomes in the GnomAD database, including 2,317 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 0.12 (2317 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.60

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.48).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.319 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: 0.116 AC: 17659 AN: 152040 Hom.: 2318 Cov.: 32

Gnomad AFR AF: 0.324

Gnomad AMI AF: 0.0800

Gnomad AMR AF: 0.0513

Gnomad ASJ AF: 0.0277

Gnomad EAS AF: 0.000771

Gnomad SAS AF: 0.0133

Gnomad FIN AF: 0.0527

Gnomad MID AF: 0.0253

Gnomad NFE AF: 0.0368

Gnomad OTH AF: 0.0798

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

GnomAD4 genome AF: 0.116 AC: 17666 AN: 152158 Hom.: 2317 Cov.: 32 AF XY: 0.114 AC XY: 8461 AN XY: 74412

Gnomad4 AFR AF: 0.324

Gnomad4 AMR AF: 0.0511

Gnomad4 ASJ AF: 0.0277

Gnomad4 EAS AF: 0.000772

Gnomad4 SAS AF: 0.0129

Gnomad4 FIN AF: 0.0527

Gnomad4 NFE AF: 0.0368

Gnomad4 OTH AF: 0.0790

Alfa AF: 0.0460 Hom.: 526

Bravo AF: 0.127

Asia WGS AF: 0.0230 AC: 80 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.48
CADD	Benign	15
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7195127; hg19: chr16-51130133;