rs726820

Variant names:

• chr7-93982598-G-A
• rs726820
• ENST00000357520.8:n.236-6498C>T

Variant summary

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

The ENST00000357520.8(BET1):​n.236-6498C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0942 in 152,058 control chromosomes in the GnomAD database, including 832 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 0.094 (832 hom., cov: 32)
• Consequence: BET1 ENST00000357520.8 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.359
• Publications: 4 publications found

Genes affected

BET1 (HGNC:14562): (Bet1 golgi vesicular membrane trafficking protein) This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

BET1-AS1 (HGNC:40690): (BET1 antisense RNA 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.127 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000357520.8. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	BET1	NR_133908.2		n.375-6498C>T		intron	N/A
	BET1	NR_133909.2		n.341-6498C>T		intron	N/A
	BET1-AS1	NR_186701.1		n.1288-4543G>A		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	BET1	ENST00000357520.8	TSL:1	n.236-6498C>T		intron	N/A	ENSP00000350125.4	Q68DU7
	BET1-AS1	ENST00000426193.6	TSL:4	n.226-4543G>A		intron	N/A
	BET1-AS1	ENST00000426634.1	TSL:5	n.220-4543G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0943 AC: 14323 AN: 151940 Hom.: 834 Cov.: 32

Gnomad AFR AF: 0.0317

Gnomad AMI AF: 0.144

Gnomad AMR AF: 0.108

Gnomad ASJ AF: 0.141

Gnomad EAS AF: 0.0479

Gnomad SAS AF: 0.0727

Gnomad FIN AF: 0.102

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.129

Gnomad OTH AF: 0.109

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

GnomAD4 genome AF: 0.0942 AC: 14319 AN: 152058 Hom.: 832 Cov.: 32 AF XY: 0.0929 AC XY: 6905 AN XY: 74328

African (AFR) AF: 0.0316 AC: 1312 AN: 41498

American (AMR) AF: 0.108 AC: 1651 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.141 AC: 490 AN: 3472

East Asian (EAS) AF: 0.0478 AC: 247 AN: 5168

South Asian (SAS) AF: 0.0726 AC: 349 AN: 4810

European-Finnish (FIN) AF: 0.102 AC: 1083 AN: 10580

Middle Eastern (MID) AF: 0.119 AC: 35 AN: 294

European-Non Finnish (NFE) AF: 0.129 AC: 8797 AN: 67964

Other (OTH) AF: 0.106 AC: 224 AN: 2104

Alfa AF: 0.113 Hom.: 1668

Bravo AF: 0.0923

Asia WGS AF: 0.0560 AC: 195 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	0.65
DANN	Benign	0.79
PhyloP100		0.36

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs726820;

hg19: chr7-93611910;