rs10890898

Variant names:

• chr11-108839045-T-A
• rs10890898
• NM_004398.4:c.2085+480T>A

Your query was ambiguous. Multiple possible variants found:

• chr11-108839045-T-A
• chr11-108839045-T-G

Variant summary

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

The NM_004398.4(DDX10):​c.2085+480T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.529 in 152,070 control chromosomes in the GnomAD database, including 22,453 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 0.53 (22453 hom., cov: 32)
• Consequence: DDX10 NM_004398.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.741
• Publications: 1 publications found

Genes affected

DDX10 (HGNC:2735): (DEAD-box helicase 10) DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [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 (NFE) allele frequency at 95% confidence interval = 0.615 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_004398.4. 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
	DDX10	NM_004398.4	MANE Select	c.2085+480T>A		intron	N/A	NP_004389.2

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DDX10	ENST00000322536.8	TSL:1 MANE Select	c.2085+480T>A		intron	N/A	ENSP00000314348.3
	DDX10	ENST00000526794.1	TSL:1	c.2085+480T>A		intron	N/A	ENSP00000432032.1
	DDX10	ENST00000686283.1		c.2235+480T>A		intron	N/A	ENSP00000509891.1

Frequencies

GnomAD3 genomes AF: 0.530 AC: 80461 AN: 151952 Hom.: 22437 Cov.: 32

Gnomad AFR AF: 0.344

Gnomad AMI AF: 0.550

Gnomad AMR AF: 0.608

Gnomad ASJ AF: 0.610

Gnomad EAS AF: 0.442

Gnomad SAS AF: 0.524

Gnomad FIN AF: 0.580

Gnomad MID AF: 0.528

Gnomad NFE AF: 0.619

Gnomad OTH AF: 0.545

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

GnomAD4 genome AF: 0.529 AC: 80520 AN: 152070 Hom.: 22453 Cov.: 32 AF XY: 0.528 AC XY: 39208 AN XY: 74326

African (AFR) AF: 0.344 AC: 14265 AN: 41488

American (AMR) AF: 0.608 AC: 9292 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.610 AC: 2115 AN: 3470

East Asian (EAS) AF: 0.442 AC: 2283 AN: 5164

South Asian (SAS) AF: 0.525 AC: 2533 AN: 4822

European-Finnish (FIN) AF: 0.580 AC: 6122 AN: 10562

Middle Eastern (MID) AF: 0.541 AC: 159 AN: 294

European-Non Finnish (NFE) AF: 0.620 AC: 42103 AN: 67962

Other (OTH) AF: 0.543 AC: 1146 AN: 2110

Alfa AF: 0.575 Hom.: 3232

Bravo AF: 0.524

Asia WGS AF: 0.480 AC: 1671 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	0.54
PhyloP100		0.74
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: rs10890898; hg19: chr11-108709772;