6-13634750-C-T

Variant names:

• chr6-13634750-C-T
• rs707816
• NM_005493.3:c.1674-198G>A

Variant summary

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

The ENST00000011619.6(RANBP9):​c.1674-198G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.431 in 151,950 control chromosomes in the GnomAD database, including 14,567 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as (no stars).

• Frequency: Genomes: 𝑓 0.43 (14567 hom., cov: 32)
• Consequence: RANBP9 ENST00000011619.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0160
• Publications: 6 publications found

Genes affected

RANBP9 (HGNC:13727): (RAN binding protein 9) This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.504 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000011619.6. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	RANBP9	NM_005493.3	MANE Select	c.1674-198G>A		intron	N/A	NP_005484.2

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	RANBP9	ENST00000011619.6	TSL:1 MANE Select	c.1674-198G>A		intron	N/A	ENSP00000011619.3

Frequencies

GnomAD3 genomes AF: 0.431 AC: 65462 AN: 151832 Hom.: 14533 Cov.: 32

Gnomad AFR AF: 0.510

Gnomad AMI AF: 0.258

Gnomad AMR AF: 0.508

Gnomad ASJ AF: 0.368

Gnomad EAS AF: 0.295

Gnomad SAS AF: 0.387

Gnomad FIN AF: 0.413

Gnomad MID AF: 0.342

Gnomad NFE AF: 0.390

Gnomad OTH AF: 0.402

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

GnomAD4 genome AF: 0.431 AC: 65553 AN: 151950 Hom.: 14567 Cov.: 32 AF XY: 0.434 AC XY: 32261 AN XY: 74262

African (AFR) AF: 0.510 AC: 21122 AN: 41440

American (AMR) AF: 0.509 AC: 7769 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.368 AC: 1277 AN: 3470

East Asian (EAS) AF: 0.295 AC: 1529 AN: 5184

South Asian (SAS) AF: 0.387 AC: 1864 AN: 4812

European-Finnish (FIN) AF: 0.413 AC: 4342 AN: 10520

Middle Eastern (MID) AF: 0.347 AC: 102 AN: 294

European-Non Finnish (NFE) AF: 0.390 AC: 26464 AN: 67936

Other (OTH) AF: 0.403 AC: 849 AN: 2108

Alfa AF: 0.399 Hom.: 26571

Bravo AF: 0.442

Asia WGS AF: 0.381 AC: 1327 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	6.3
DANN	Benign	0.79
PhyloP100		-0.016
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: rs707816; hg19: chr6-13634982;