rs991911

Variant names:

• chr16-24279732-T-A
• rs991911
• NM_006539.4:c.211+22767T>A

Variant summary

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

The NM_006539.4(CACNG3):​c.211+22767T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.395 in 152,058 control chromosomes in the GnomAD database, including 11,980 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 0.40 (11980 hom., cov: 32)
• Consequence: CACNG3 NM_006539.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00400
• Publications: 5 publications found

Genes affected

CACNG3 (HGNC:1407): (calcium voltage-gated channel auxiliary subunit gamma 3) The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.542 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CACNG3	NM_006539.4	c.211+22767T>A		intron_variant	Intron 1 of 3	ENST00000005284.4	NP_006530.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CACNG3	ENST00000005284.4	c.211+22767T>A		intron_variant	Intron 1 of 3	1	NM_006539.4	ENSP00000005284.4

Frequencies

GnomAD3 genomes AF: 0.395 AC: 60051 AN: 151940 Hom.: 11975 Cov.: 32

Gnomad AFR AF: 0.414

Gnomad AMI AF: 0.365

Gnomad AMR AF: 0.361

Gnomad ASJ AF: 0.440

Gnomad EAS AF: 0.305

Gnomad SAS AF: 0.559

Gnomad FIN AF: 0.382

Gnomad MID AF: 0.500

Gnomad NFE AF: 0.386

Gnomad OTH AF: 0.406

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

GnomAD4 genome AF: 0.395 AC: 60088 AN: 152058 Hom.: 11980 Cov.: 32 AF XY: 0.397 AC XY: 29474 AN XY: 74318

African (AFR) AF: 0.414 AC: 17175 AN: 41466

American (AMR) AF: 0.361 AC: 5514 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.440 AC: 1529 AN: 3472

East Asian (EAS) AF: 0.305 AC: 1579 AN: 5182

South Asian (SAS) AF: 0.559 AC: 2695 AN: 4818

European-Finnish (FIN) AF: 0.382 AC: 4029 AN: 10560

Middle Eastern (MID) AF: 0.486 AC: 143 AN: 294

European-Non Finnish (NFE) AF: 0.386 AC: 26237 AN: 67970

Other (OTH) AF: 0.404 AC: 855 AN: 2114

Alfa AF: 0.392 Hom.: 1462

Bravo AF: 0.388

Asia WGS AF: 0.427 AC: 1489 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.3
DANN	Benign	0.54
PhyloP100		-0.0040
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: rs991911; hg19: chr16-24291053;