rs7994782

Positions:

• chr13-107741543-G-A

Variant summary

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

The NM_001080396.3(NALF1):​c.915+124139C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.459 in 149,250 control chromosomes in the GnomAD database, including 16,632 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 0.46 (16632 hom., cov: 32)
• Consequence: NALF1 NM_001080396.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.412

Genes affected

NALF1 (HGNC:33877): (NALCN channel auxiliary factor 1) Predicted to contribute to stretch-activated, cation-selective, calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.549 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
NALF1	NM_001080396.3	c.915+124139C>T		intron_variant		ENST00000375915.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
NALF1	ENST00000375915.4	c.915+124139C>T		intron_variant		1	NM_001080396.3	P1

Frequencies

GnomAD3 genomes AF: 0.459 AC: 68522 AN: 149132 Hom.: 16628 Cov.: 32

Gnomad AFR AF: 0.274

Gnomad AMI AF: 0.426

Gnomad AMR AF: 0.448

Gnomad ASJ AF: 0.489

Gnomad EAS AF: 0.393

Gnomad SAS AF: 0.436

Gnomad FIN AF: 0.600

Gnomad MID AF: 0.445

Gnomad NFE AF: 0.553

Gnomad OTH AF: 0.494

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

GnomAD4 genome AF: 0.459 AC: 68532 AN: 149250 Hom.: 16632 Cov.: 32 AF XY: 0.460 AC XY: 33534 AN XY: 72870

Gnomad4 AFR AF: 0.274

Gnomad4 AMR AF: 0.448

Gnomad4 ASJ AF: 0.489

Gnomad4 EAS AF: 0.392

Gnomad4 SAS AF: 0.437

Gnomad4 FIN AF: 0.600

Gnomad4 NFE AF: 0.553

Gnomad4 OTH AF: 0.492

Alfa AF: 0.505 Hom.: 5481

Bravo AF: 0.433

Asia WGS AF: 0.395 AC: 1378 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.5
DANN	Benign	0.75

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: rs7994782; hg19: chr13-108393891;