rs7185307

Variant names:

• chr16-11953042-C-A
• rs7185307
• NM_001395854.1:c.-307+3102G>T

Your query was ambiguous. Multiple possible variants found:

• chr16-11953042-C-A
• chr16-11953042-C-G
• chr16-11953042-C-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_001395854.1(NPIPB2):​c.-307+3102G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 32)
• Consequence: NPIPB2 NM_001395854.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.360
• Publications: 12 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: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
NPIPB2	NM_001395854.1	c.-307+3102G>T		intron_variant	Intron 3 of 9		NP_001382783.1
NPIPB2	NM_001395855.1	c.-307+3102G>T		intron_variant	Intron 2 of 8		NP_001382784.1
NPIPB2	NM_001355514.1	c.-307+3102G>T		intron_variant	Intron 3 of 8		NP_001342443.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NPIPB2	ENST00000673243.1	c.-307+3102G>T		intron_variant	Intron 3 of 9			ENSP00000500799.1
NPIPB2	ENST00000538896.5	c.-583-10928G>T		intron_variant	Intron 1 of 5	5		ENSP00000442069.1
NPIPB2	ENST00000532936.1	n.306+3102G>T		intron_variant	Intron 3 of 5	4

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	7.0
DANN	Benign	0.84
PhyloP100		-0.36

Splicing

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

Other links and lift over

dbSNP: rs7185307; hg19: chr16-12046899;