chr12-5872187-C-T

Variant names:

• chr12-5872187-C-T
• rs7307889
• NM_001364791.2:c.535-18046G>A

Variant summary

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

The NM_001364791.2(ANO2):​c.535-18046G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0708 in 152,084 control chromosomes in the GnomAD database, including 877 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 0.071 (877 hom., cov: 32)
• Consequence: ANO2 NM_001364791.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29
• Publications: 8 publications found

Genes affected

ANO2 (HGNC:1183): (anoctamin 2) ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.196 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001364791.2. 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
	ANO2	NM_001364791.2	MANE Select	c.535-18046G>A		intron	N/A	NP_001351720.1	A0A804HIY3
	ANO2	NM_001278596.3		c.535-18046G>A		intron	N/A	NP_001265525.1	Q9NQ90-1
	ANO2	NM_001278597.3		c.523-18046G>A		intron	N/A	NP_001265526.1	Q9NQ90-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ANO2	ENST00000682330.1	MANE Select	c.535-18046G>A		intron	N/A	ENSP00000507275.1	A0A804HIY3
	ANO2	ENST00000650848.1		c.535-18046G>A		intron	N/A	ENSP00000498903.1	Q9NQ90-1
	ANO2	ENST00000356134.9	TSL:5	c.523-18046G>A		intron	N/A	ENSP00000348453.5	Q9NQ90-2

Frequencies

GnomAD3 genomes AF: 0.0706 AC: 10727 AN: 151966 Hom.: 874 Cov.: 32

Gnomad AFR AF: 0.199

Gnomad AMI AF: 0.00987

Gnomad AMR AF: 0.0401

Gnomad ASJ AF: 0.0624

Gnomad EAS AF: 0.000193

Gnomad SAS AF: 0.0164

Gnomad FIN AF: 0.00462

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.0205

Gnomad OTH AF: 0.0593

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

GnomAD4 genome AF: 0.0708 AC: 10763 AN: 152084 Hom.: 877 Cov.: 32 AF XY: 0.0675 AC XY: 5022 AN XY: 74346

African (AFR) AF: 0.199 AC: 8265 AN: 41460

American (AMR) AF: 0.0401 AC: 612 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.0624 AC: 216 AN: 3462

East Asian (EAS) AF: 0.000193 AC: 1 AN: 5178

South Asian (SAS) AF: 0.0162 AC: 78 AN: 4802

European-Finnish (FIN) AF: 0.00462 AC: 49 AN: 10598

Middle Eastern (MID) AF: 0.0442 AC: 13 AN: 294

European-Non Finnish (NFE) AF: 0.0205 AC: 1396 AN: 67992

Other (OTH) AF: 0.0587 AC: 124 AN: 2114

Alfa AF: 0.0683 Hom.: 539

Bravo AF: 0.0793

Asia WGS AF: 0.0190 AC: 67 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	0.91
DANN	Benign	0.54
PhyloP100		-1.3
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs7307889; hg19: chr12-5981353;