NM_130808.3:c.360+3844T>C

Variant names:

• chr3-131719602-A-G
• rs9826951
• NM_130808.3:c.360+3844T>C

Variant summary

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

The NM_130808.3(CPNE4):​c.360+3844T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.748 in 152,030 control chromosomes in the GnomAD database, including 42,809 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 0.75 (42809 hom., cov: 31)
• Consequence: CPNE4 NM_130808.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0200
• Publications: 3 publications found

Genes affected

CPNE4 (HGNC:2317): (copine 4) This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.801 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CPNE4	NM_130808.3	c.360+3844T>C		intron_variant	Intron 3 of 15	ENST00000429747.6	NP_570720.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CPNE4	ENST00000429747.6	c.360+3844T>C		intron_variant	Intron 3 of 15	1	NM_130808.3	ENSP00000411904.1
CPNE4	ENST00000511604.5	c.360+3844T>C		intron_variant	Intron 6 of 18	1		ENSP00000423811.1

Frequencies

GnomAD3 genomes AF: 0.748 AC: 113582 AN: 151912 Hom.: 42770 Cov.: 31

Gnomad AFR AF: 0.670

Gnomad AMI AF: 0.894

Gnomad AMR AF: 0.713

Gnomad ASJ AF: 0.828

Gnomad EAS AF: 0.653

Gnomad SAS AF: 0.679

Gnomad FIN AF: 0.756

Gnomad MID AF: 0.775

Gnomad NFE AF: 0.807

Gnomad OTH AF: 0.751

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

GnomAD4 genome AF: 0.748 AC: 113672 AN: 152030 Hom.: 42809 Cov.: 31 AF XY: 0.743 AC XY: 55183 AN XY: 74304

African (AFR) AF: 0.671 AC: 27789 AN: 41440

American (AMR) AF: 0.713 AC: 10896 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.828 AC: 2874 AN: 3470

East Asian (EAS) AF: 0.652 AC: 3360 AN: 5150

South Asian (SAS) AF: 0.680 AC: 3278 AN: 4822

European-Finnish (FIN) AF: 0.756 AC: 7994 AN: 10576

Middle Eastern (MID) AF: 0.769 AC: 226 AN: 294

European-Non Finnish (NFE) AF: 0.807 AC: 54869 AN: 67978

Other (OTH) AF: 0.747 AC: 1574 AN: 2106

Alfa AF: 0.770 Hom.: 8876

Bravo AF: 0.741

Asia WGS AF: 0.626 AC: 2179 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	2.1
DANN	Benign	0.55
PhyloP100		0.020
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: rs9826951; hg19: chr3-131438446;