rs6956432

Positions:

• chr7-150842063-A-G

Variant summary

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

The ENST00000467291.5(AOC1):​c.-92-10052A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.333 in 152,054 control chromosomes in the GnomAD database, including 8,647 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 0.33 (8647 hom., cov: 31)
• Consequence: AOC1 ENST00000467291.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.42

Genes affected

AOC1 (HGNC:80): (amine oxidase copper containing 1) This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

LOC105375567 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.04).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.373 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC105375567	XR_928169.3	n.123-618T>C		intron_variant
LOC105375567	XR_928171.3	n.123-618T>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
AOC1	ENST00000467291.5	c.-92-10052A>G		intron_variant		5		ENSP00000418328.1
AOC1	ENST00000493429.5	c.-92-10052A>G		intron_variant		5		ENSP00000418614.1

Frequencies

GnomAD3 genomes AF: 0.333 AC: 50569 AN: 151936 Hom.: 8638 Cov.: 31

Gnomad AFR AF: 0.378

Gnomad AMI AF: 0.297

Gnomad AMR AF: 0.328

Gnomad ASJ AF: 0.277

Gnomad EAS AF: 0.224

Gnomad SAS AF: 0.251

Gnomad FIN AF: 0.401

Gnomad MID AF: 0.288

Gnomad NFE AF: 0.314

Gnomad OTH AF: 0.301

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

GnomAD4 genome AF: 0.333 AC: 50605 AN: 152054 Hom.: 8647 Cov.: 31 AF XY: 0.336 AC XY: 24961 AN XY: 74316

Gnomad4 AFR AF: 0.378

Gnomad4 AMR AF: 0.328

Gnomad4 ASJ AF: 0.277

Gnomad4 EAS AF: 0.223

Gnomad4 SAS AF: 0.251

Gnomad4 FIN AF: 0.401

Gnomad4 NFE AF: 0.314

Gnomad4 OTH AF: 0.300

Alfa AF: 0.314 Hom.: 3834

Bravo AF: 0.329

Asia WGS AF: 0.288 AC: 1005 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.47
DANN	Benign	0.32

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs6956432; hg19: chr7-150539151;