rs16914136

Variant names:

• chr8-91530735-A-G
• rs16914136

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 0.0624 in 152,276 control chromosomes in the GnomAD database, including 387 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 0.062 (387 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0160
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.109 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: 0.0624 AC: 9499 AN: 152158 Hom.: 386 Cov.: 33

Gnomad AFR AF: 0.111

Gnomad AMI AF: 0.0965

Gnomad AMR AF: 0.0473

Gnomad ASJ AF: 0.0416

Gnomad EAS AF: 0.0400

Gnomad SAS AF: 0.0190

Gnomad FIN AF: 0.0175

Gnomad MID AF: 0.0475

Gnomad NFE AF: 0.0486

Gnomad OTH AF: 0.0631

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

GnomAD4 genome AF: 0.0624 AC: 9507 AN: 152276 Hom.: 387 Cov.: 33 AF XY: 0.0597 AC XY: 4445 AN XY: 74464

African (AFR) AF: 0.111 AC: 4618 AN: 41536

American (AMR) AF: 0.0472 AC: 722 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.0416 AC: 144 AN: 3462

East Asian (EAS) AF: 0.0399 AC: 207 AN: 5186

South Asian (SAS) AF: 0.0188 AC: 91 AN: 4828

European-Finnish (FIN) AF: 0.0175 AC: 186 AN: 10616

Middle Eastern (MID) AF: 0.0374 AC: 11 AN: 294

European-Non Finnish (NFE) AF: 0.0486 AC: 3309 AN: 68026

Other (OTH) AF: 0.0620 AC: 131 AN: 2114

Alfa AF: 0.0491 Hom.: 114

Bravo AF: 0.0676

Asia WGS AF: 0.0510 AC: 178 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	1.4
DANN	Benign	0.32
PhyloP100		-0.016

Splicing

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

Other links and lift over

dbSNP: rs16914136; hg19: chr8-92542963; COSMIC: COSV65404212;