chr16-11961334-C-T

Variant names:

• chr16-11961334-C-T
• rs11862958
• NM_001395854.1:c.-401+2557G>A

Variant summary

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

The NM_001395854.1(NPIPB2):​c.-401+2557G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.272 in 152,068 control chromosomes in the GnomAD database, including 6,904 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 0.27 (6904 hom., cov: 31)
• Consequence: NPIPB2 NM_001395854.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.60
• Publications: 7 publications found

Genes affected

NPIPB2 (HGNC:37451): (nuclear pore complex interacting protein family member B2) Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.381 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001395854.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NPIPB2	NM_001395854.1		c.-401+2557G>A		intron	N/A	NP_001382783.1	A0A5F9ZI19
	NPIPB2	NM_001395855.1		c.-400-5097G>A		intron	N/A	NP_001382784.1	A0A5F9ZI19
	NPIPB2	NM_001355514.1		c.-401+2557G>A		intron	N/A	NP_001342443.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NPIPB2	ENST00000673243.1		c.-401+2557G>A		intron	N/A	ENSP00000500799.1	A0A5F9ZI19
	NPIPB2	ENST00000538896.5	TSL:5	c.-584+15234G>A		intron	N/A	ENSP00000442069.1	F5H898
	NPIPB2	ENST00000532936.1	TSL:4	n.212+2557G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.273 AC: 41422 AN: 151950 Hom.: 6904 Cov.: 31

Gnomad AFR AF: 0.117

Gnomad AMI AF: 0.358

Gnomad AMR AF: 0.286

Gnomad ASJ AF: 0.388

Gnomad EAS AF: 0.0122

Gnomad SAS AF: 0.162

Gnomad FIN AF: 0.262

Gnomad MID AF: 0.310

Gnomad NFE AF: 0.385

Gnomad OTH AF: 0.327

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

GnomAD4 genome AF: 0.272 AC: 41427 AN: 152068 Hom.: 6904 Cov.: 31 AF XY: 0.263 AC XY: 19524 AN XY: 74336

African (AFR) AF: 0.117 AC: 4864 AN: 41506

American (AMR) AF: 0.286 AC: 4356 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.388 AC: 1346 AN: 3470

East Asian (EAS) AF: 0.0120 AC: 62 AN: 5172

South Asian (SAS) AF: 0.163 AC: 788 AN: 4828

European-Finnish (FIN) AF: 0.262 AC: 2769 AN: 10564

Middle Eastern (MID) AF: 0.306 AC: 90 AN: 294

European-Non Finnish (NFE) AF: 0.385 AC: 26142 AN: 67966

Other (OTH) AF: 0.324 AC: 684 AN: 2112

Alfa AF: 0.341 Hom.: 8872

Bravo AF: 0.269

Asia WGS AF: 0.0930 AC: 323 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.012
DANN	Benign	0.50
PhyloP100		-1.6

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs11862958; hg19: chr16-12055191;