rs2054255

Variant names:

• chr8-109261631-G-A
• rs2054255
• NM_032869.4:c.1299+9374C>T

Variant summary

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

The NM_032869.4(NUDCD1):​c.1299+9374C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.483 in 149,210 control chromosomes in the GnomAD database, including 17,908 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 0.48 (17908 hom., cov: 31)
• Consequence: NUDCD1 NM_032869.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.08
• Publications: 2 publications found

Genes affected

NUDCD1 (HGNC:24306): (NudC domain containing 1) Predicted to be involved in immune system process. Located in cytosol and nucleoplasm. [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=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.636 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_032869.4. 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
	NUDCD1	NM_032869.4	MANE Select	c.1299+9374C>T		intron	N/A	NP_116258.2	Q96RS6-1
	NUDCD1	NM_001128211.2		c.1212+9374C>T		intron	N/A	NP_001121683.1	Q96RS6-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NUDCD1	ENST00000239690.9	TSL:1 MANE Select	c.1299+9374C>T		intron	N/A	ENSP00000239690.4	Q96RS6-1
	NUDCD1	ENST00000427660.6	TSL:1	c.1212+9374C>T		intron	N/A	ENSP00000410707.2	Q96RS6-2
	NUDCD1	ENST00000519607.5	TSL:1	n.*1064+9374C>T		intron	N/A	ENSP00000430095.1	E5RGX7

Frequencies

GnomAD3 genomes AF: 0.483 AC: 72022 AN: 149096 Hom.: 17872 Cov.: 31

Gnomad AFR AF: 0.642

Gnomad AMI AF: 0.577

Gnomad AMR AF: 0.505

Gnomad ASJ AF: 0.257

Gnomad EAS AF: 0.474

Gnomad SAS AF: 0.530

Gnomad FIN AF: 0.453

Gnomad MID AF: 0.232

Gnomad NFE AF: 0.401

Gnomad OTH AF: 0.435

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

GnomAD4 genome AF: 0.483 AC: 72116 AN: 149210 Hom.: 17908 Cov.: 31 AF XY: 0.487 AC XY: 35528 AN XY: 72922

African (AFR) AF: 0.643 AC: 25103 AN: 39070

American (AMR) AF: 0.505 AC: 7640 AN: 15114

Ashkenazi Jewish (ASJ) AF: 0.257 AC: 891 AN: 3470

East Asian (EAS) AF: 0.475 AC: 2452 AN: 5164

South Asian (SAS) AF: 0.530 AC: 2547 AN: 4810

European-Finnish (FIN) AF: 0.453 AC: 4750 AN: 10476

Middle Eastern (MID) AF: 0.240 AC: 69 AN: 288

European-Non Finnish (NFE) AF: 0.401 AC: 27232 AN: 67846

Other (OTH) AF: 0.440 AC: 908 AN: 2064

Alfa AF: 0.448 Hom.: 2579

Bravo AF: 0.480

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.38
DANN	Benign	0.17
PhyloP100		-1.1
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1
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: rs2054255; hg19: chr8-110273860;