rs1947983

Variant names:

• chr2-203017870-A-C
• rs1947983
• NM_001378026.1:c.51+1435A>C

Your query was ambiguous. Multiple possible variants found:

• chr2-203017870-A-C
• chr2-203017870-A-G

Variant summary

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

The NM_001378026.1(NBEAL1):​c.51+1435A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.427 in 151,906 control chromosomes in the GnomAD database, including 16,212 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 (16212 hom., cov: 31)
• Consequence: NBEAL1 NM_001378026.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.223
• Publications: 10 publications found

Genes affected

NBEAL1 (HGNC:20681): (neurobeachin like 1) Predicted to enable protein kinase binding activity. Predicted to be involved in protein localization. Predicted to be active in cytosol and membrane. [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=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.582 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001378026.1. 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
	NBEAL1	NM_001378026.1	MANE Select	c.51+1435A>C		intron	N/A	NP_001364955.1	A0A804HKS6
	NBEAL1	NM_001114132.2		c.51+1435A>C		intron	N/A	NP_001107604.1	Q6ZS30-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NBEAL1	ENST00000683969.1	MANE Select	c.51+1435A>C		intron	N/A	ENSP00000508055.1	A0A804HKS6
	NBEAL1	ENST00000478884.5	TSL:1	n.338+1435A>C		intron	N/A
	NBEAL1	ENST00000449802.5	TSL:5	c.51+1435A>C		intron	N/A	ENSP00000399903.1	Q6ZS30-2

Frequencies

GnomAD3 genomes AF: 0.427 AC: 64856 AN: 151788 Hom.: 16224 Cov.: 31

Gnomad AFR AF: 0.171

Gnomad AMI AF: 0.640

Gnomad AMR AF: 0.448

Gnomad ASJ AF: 0.696

Gnomad EAS AF: 0.304

Gnomad SAS AF: 0.601

Gnomad FIN AF: 0.424

Gnomad MID AF: 0.685

Gnomad NFE AF: 0.557

Gnomad OTH AF: 0.472

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

GnomAD4 genome AF: 0.427 AC: 64830 AN: 151906 Hom.: 16212 Cov.: 31 AF XY: 0.426 AC XY: 31637 AN XY: 74220

African (AFR) AF: 0.171 AC: 7092 AN: 41486

American (AMR) AF: 0.447 AC: 6819 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.696 AC: 2418 AN: 3472

East Asian (EAS) AF: 0.305 AC: 1580 AN: 5182

South Asian (SAS) AF: 0.600 AC: 2882 AN: 4804

European-Finnish (FIN) AF: 0.424 AC: 4464 AN: 10532

Middle Eastern (MID) AF: 0.682 AC: 199 AN: 292

European-Non Finnish (NFE) AF: 0.557 AC: 37805 AN: 67854

Other (OTH) AF: 0.467 AC: 987 AN: 2114

Alfa AF: 0.520 Hom.: 79629

Bravo AF: 0.410

Asia WGS AF: 0.432 AC: 1495 AN: 3460

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	5.0
DANN	Benign	0.74
PhyloP100		-0.22
Mutation Taster		=100/0	polymorphism (auto)

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: rs1947983; hg19: chr2-203882593;