rs12920112

Variant names:

• chr16-86948799-G-A
• rs12920112
• ENST00000670133.1:n.189-6933G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000670133.1(ENSG00000287161):​n.189-6933G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.167 in 152,206 control chromosomes in the GnomAD database, including 2,330 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 0.17 (2330 hom., cov: 33)
• Consequence: ENSG00000287161 ENST00000670133.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.310
• Publications: 0 publications found

Genes affected

ENSG00000287161 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.248 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
ENSG00000287161	ENST00000670133.1	n.189-6933G>A		intron_variant	Intron 1 of 2
ENSG00000289423	ENST00000836704.1	n.187+665C>T		intron_variant	Intron 2 of 2
ENSG00000289423	ENST00000836705.1	n.242+665C>T		intron_variant	Intron 2 of 2

Frequencies

GnomAD3 genomes AF: 0.167 AC: 25417 AN: 152088 Hom.: 2327 Cov.: 33

Gnomad AFR AF: 0.0984

Gnomad AMI AF: 0.248

Gnomad AMR AF: 0.171

Gnomad ASJ AF: 0.136

Gnomad EAS AF: 0.177

Gnomad SAS AF: 0.260

Gnomad FIN AF: 0.177

Gnomad MID AF: 0.165

Gnomad NFE AF: 0.200

Gnomad OTH AF: 0.163

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

GnomAD4 genome AF: 0.167 AC: 25420 AN: 152206 Hom.: 2330 Cov.: 33 AF XY: 0.168 AC XY: 12512 AN XY: 74414

African (AFR) AF: 0.0982 AC: 4081 AN: 41552

American (AMR) AF: 0.171 AC: 2608 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.136 AC: 473 AN: 3466

East Asian (EAS) AF: 0.176 AC: 912 AN: 5170

South Asian (SAS) AF: 0.260 AC: 1252 AN: 4814

European-Finnish (FIN) AF: 0.177 AC: 1871 AN: 10598

Middle Eastern (MID) AF: 0.160 AC: 47 AN: 294

European-Non Finnish (NFE) AF: 0.200 AC: 13597 AN: 67994

Other (OTH) AF: 0.167 AC: 353 AN: 2110

Alfa AF: 0.184 Hom.: 575

Bravo AF: 0.159

Asia WGS AF: 0.217 AC: 752 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.2
DANN	Benign	0.69
PhyloP100		-0.31

Splicing

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

Other links and lift over

dbSNP: rs12920112; hg19: chr16-86982405;