rs1836669

Variant names:

• chr2-133484900-G-A
• rs1836669
• NM_207363.3:c.69+32558C>T

Your query was ambiguous. Multiple possible variants found:

• chr2-133484900-G-A
• chr2-133484900-G-T

Variant summary

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

The NM_207363.3(NCKAP5):​c.69+32558C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.28 in 152,020 control chromosomes in the GnomAD database, including 6,274 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 0.28 (6274 hom., cov: 33)
• Consequence: NCKAP5 NM_207363.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.228
• Publications: 7 publications found

Genes affected

NCKAP5 (HGNC:29847): (NCK associated protein 5) Predicted to be involved in microtubule bundle formation and microtubule depolymerization. Predicted to be active in microtubule plus-end. [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=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.325 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
NCKAP5	NM_207363.3	c.69+32558C>T		intron_variant	Intron 3 of 19	ENST00000409261.6	NP_997246.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NCKAP5	ENST00000409261.6	c.69+32558C>T		intron_variant	Intron 3 of 19	5	NM_207363.3	ENSP00000387128.1
NCKAP5	ENST00000427594.5	c.54+32558C>T		intron_variant	Intron 1 of 4	1		ENSP00000399070.1
NCKAP5	ENST00000409213.5	c.69+32558C>T		intron_variant	Intron 3 of 17	5		ENSP00000386952.1
NCKAP5	ENST00000358991.4	c.69+32558C>T		intron_variant	Intron 2 of 3	5		ENSP00000351882.4

Frequencies

GnomAD3 genomes AF: 0.280 AC: 42557 AN: 151902 Hom.: 6266 Cov.: 33

Gnomad AFR AF: 0.195

Gnomad AMI AF: 0.322

Gnomad AMR AF: 0.251

Gnomad ASJ AF: 0.310

Gnomad EAS AF: 0.294

Gnomad SAS AF: 0.319

Gnomad FIN AF: 0.311

Gnomad MID AF: 0.174

Gnomad NFE AF: 0.329

Gnomad OTH AF: 0.260

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

GnomAD4 genome AF: 0.280 AC: 42589 AN: 152020 Hom.: 6274 Cov.: 33 AF XY: 0.277 AC XY: 20614 AN XY: 74296

African (AFR) AF: 0.195 AC: 8081 AN: 41466

American (AMR) AF: 0.251 AC: 3830 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.310 AC: 1077 AN: 3472

East Asian (EAS) AF: 0.294 AC: 1516 AN: 5162

South Asian (SAS) AF: 0.319 AC: 1537 AN: 4820

European-Finnish (FIN) AF: 0.311 AC: 3291 AN: 10568

Middle Eastern (MID) AF: 0.173 AC: 51 AN: 294

European-Non Finnish (NFE) AF: 0.329 AC: 22353 AN: 67936

Other (OTH) AF: 0.264 AC: 559 AN: 2114

Alfa AF: 0.296 Hom.: 6937

Bravo AF: 0.270

Asia WGS AF: 0.311 AC: 1078 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.0
DANN	Benign	0.69
PhyloP100		0.23
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: rs1836669; hg19: chr2-134242471;