2-30785380-G-C

Variant names:

• chr2-30785380-G-C
• rs10495781
• NM_144575.3:c.198+1748C>G

Variant summary

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

The NM_144575.3(CAPN13):​c.198+1748C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.109 in 152,160 control chromosomes in the GnomAD database, including 2,809 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 0.11 (2809 hom., cov: 32)
• Consequence: CAPN13 NM_144575.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.11
• Publications: 0 publications found

Genes affected

CAPN13 (HGNC:16663): (calpain 13) The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.361 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CAPN13	NM_144575.3	c.198+1748C>G		intron_variant	Intron 2 of 22	ENST00000295055.12	NP_653176.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CAPN13	ENST00000295055.12	c.198+1748C>G		intron_variant	Intron 2 of 22	5	NM_144575.3	ENSP00000295055.8
CAPN13	ENST00000458085.6	n.198+1748C>G		intron_variant	Intron 3 of 15	5		ENSP00000416191.2
CAPN13	ENST00000465960.2	n.547+1748C>G		intron_variant	Intron 3 of 8	5
CAPN13	ENST00000485248.2	n.198+1748C>G		intron_variant	Intron 3 of 5	3		ENSP00000440723.1

Frequencies

GnomAD3 genomes AF: 0.109 AC: 16619 AN: 152042 Hom.: 2800 Cov.: 32

Gnomad AFR AF: 0.366

Gnomad AMI AF: 0.0581

Gnomad AMR AF: 0.0424

Gnomad ASJ AF: 0.00663

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00850

Gnomad FIN AF: 0.000471

Gnomad MID AF: 0.0506

Gnomad NFE AF: 0.00810

Gnomad OTH AF: 0.0809

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

GnomAD4 genome AF: 0.109 AC: 16658 AN: 152160 Hom.: 2809 Cov.: 32 AF XY: 0.106 AC XY: 7893 AN XY: 74418

African (AFR) AF: 0.366 AC: 15154 AN: 41450

American (AMR) AF: 0.0424 AC: 649 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.00663 AC: 23 AN: 3470

East Asian (EAS) AF: 0.00 AC: 0 AN: 5188

South Asian (SAS) AF: 0.00851 AC: 41 AN: 4820

European-Finnish (FIN) AF: 0.000471 AC: 5 AN: 10606

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

European-Non Finnish (NFE) AF: 0.00810 AC: 551 AN: 68010

Other (OTH) AF: 0.0800 AC: 169 AN: 2112

Alfa AF: 0.0687 Hom.: 210

Bravo AF: 0.124

Asia WGS AF: 0.0260 AC: 92 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.076
DANN	Benign	0.44
PhyloP100		-1.1
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: rs10495781; hg19: chr2-31008246;