7-72179062-A-G

Position:

• chr7-72179062-A-G

Variant summary

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

The NM_031468.4(CALN1):​c.245-72768T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.431 in 152,052 control chromosomes in the GnomAD database, including 15,450 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 0.43 (15450 hom., cov: 32)
• Consequence: CALN1 NM_031468.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.782

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=-0.71).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.941 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CALN1	NM_031468.4	c.245-72768T>C		intron_variant		ENST00000395275.7	NP_113656.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CALN1	ENST00000395275.7	c.245-72768T>C		intron_variant		5	NM_031468.4	ENSP00000378690.2

Frequencies

GnomAD3 genomes AF: 0.431 AC: 65522 AN: 151934 Hom.: 15434 Cov.: 32

Gnomad AFR AF: 0.457

Gnomad AMI AF: 0.370

Gnomad AMR AF: 0.525

Gnomad ASJ AF: 0.298

Gnomad EAS AF: 0.963

Gnomad SAS AF: 0.640

Gnomad FIN AF: 0.476

Gnomad MID AF: 0.351

Gnomad NFE AF: 0.340

Gnomad OTH AF: 0.427

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

GnomAD4 genome AF: 0.431 AC: 65582 AN: 152052 Hom.: 15450 Cov.: 32 AF XY: 0.445 AC XY: 33052 AN XY: 74316

Gnomad4 AFR AF: 0.457

Gnomad4 AMR AF: 0.525

Gnomad4 ASJ AF: 0.298

Gnomad4 EAS AF: 0.963

Gnomad4 SAS AF: 0.638

Gnomad4 FIN AF: 0.476

Gnomad4 NFE AF: 0.340

Gnomad4 OTH AF: 0.433

Alfa AF: 0.250 Hom.: 597

Bravo AF: 0.436

Asia WGS AF: 0.792 AC: 2749 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.71
CADD	Benign	9.7
DANN	Benign	0.72

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: rs4717631; hg19: chr7-71644047;