rs7180630

Variant names:

• chr15-22851338-T-C
• rs7180630
• NM_030922.7:c.-93-301T>C

Variant summary

Our verdict is Benign. The variant received -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The NM_030922.7(NIPA2):​c.-93-301T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0699 in 152,246 control chromosomes in the GnomAD database, including 573 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.070 (573 hom., cov: 32)
• Consequence: NIPA2 NM_030922.7 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.0130
• Publications: 1 publications found

Genes affected

NIPA2 (HGNC:17044): (NIPA magnesium transporter 2) This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]

ACMG classification

Our verdict: Benign. The variant received -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BP6: Variant 15-22851338-T-C is Benign according to our data. Variant chr15-22851338-T-C is described in ClinVar as [Benign]. Clinvar id is 1275102.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.222 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
NIPA2	NM_030922.7	c.-93-301T>C		intron_variant	Intron 3 of 7	ENST00000337451.8	NP_112184.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NIPA2	ENST00000337451.8	c.-93-301T>C		intron_variant	Intron 3 of 7	5	NM_030922.7	ENSP00000337618.3

Frequencies

GnomAD3 genomes AF: 0.0699 AC: 10637 AN: 152128 Hom.: 572 Cov.: 32

Gnomad AFR AF: 0.121

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0501

Gnomad ASJ AF: 0.0850

Gnomad EAS AF: 0.233

Gnomad SAS AF: 0.0537

Gnomad FIN AF: 0.0210

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.0397

Gnomad OTH AF: 0.0684

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

GnomAD4 genome AF: 0.0699 AC: 10647 AN: 152246 Hom.: 573 Cov.: 32 AF XY: 0.0694 AC XY: 5168 AN XY: 74432

African (AFR) AF: 0.121 AC: 5024 AN: 41536

American (AMR) AF: 0.0500 AC: 765 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.0850 AC: 295 AN: 3470

East Asian (EAS) AF: 0.233 AC: 1206 AN: 5172

South Asian (SAS) AF: 0.0527 AC: 254 AN: 4820

European-Finnish (FIN) AF: 0.0210 AC: 223 AN: 10600

Middle Eastern (MID) AF: 0.102 AC: 30 AN: 294

European-Non Finnish (NFE) AF: 0.0397 AC: 2702 AN: 68032

Other (OTH) AF: 0.0696 AC: 147 AN: 2112

Alfa AF: 0.0546 Hom.: 41

Bravo AF: 0.0755

Asia WGS AF: 0.141 AC: 491 AN: 3476

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Jun 20, 2021

GeneDx

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

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Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	5.2
DANN	Benign	0.67
PhyloP100		0.013

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: rs7180630; hg19: chr15-23021730;