rs2944829

Positions:

• chr7-72321736-G-A

Variant summary

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

The NM_031468.4(CALN1):​c.120-42926C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.322 in 152,022 control chromosomes in the GnomAD database, including 9,596 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 0.32 (9596 hom., cov: 32)
• Consequence: CALN1 NM_031468.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0400

Genes affected

CALN1 (HGNC:13248): (calneuron 1) This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.5).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.44 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CALN1	NM_031468.4	c.120-42926C>T		intron_variant		ENST00000395275.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CALN1	ENST00000395275.7	c.120-42926C>T		intron_variant		5	NM_031468.4

Frequencies

GnomAD3 genomes AF: 0.322 AC: 48886 AN: 151904 Hom.: 9596 Cov.: 32

Gnomad AFR AF: 0.104

Gnomad AMI AF: 0.627

Gnomad AMR AF: 0.333

Gnomad ASJ AF: 0.412

Gnomad EAS AF: 0.237

Gnomad SAS AF: 0.394

Gnomad FIN AF: 0.311

Gnomad MID AF: 0.513

Gnomad NFE AF: 0.444

Gnomad OTH AF: 0.365

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

GnomAD4 genome AF: 0.322 AC: 48902 AN: 152022 Hom.: 9596 Cov.: 32 AF XY: 0.319 AC XY: 23671 AN XY: 74284

Gnomad4 AFR AF: 0.104

Gnomad4 AMR AF: 0.333

Gnomad4 ASJ AF: 0.412

Gnomad4 EAS AF: 0.238

Gnomad4 SAS AF: 0.394

Gnomad4 FIN AF: 0.311

Gnomad4 NFE AF: 0.444

Gnomad4 OTH AF: 0.363

Alfa AF: 0.368 Hom.: 1815

Bravo AF: 0.314

Asia WGS AF: 0.288 AC: 1000 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.50
CADD	Benign	7.3
DANN	Benign	0.85

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: rs2944829; hg19: chr7-71786721;