rs1993593

Variant names:

• chr8-109277352-C-T
• rs1993593
• NM_032869.4:c.1029-1856G>A

Variant summary

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

The NM_032869.4(NUDCD1):​c.1029-1856G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0977 in 152,100 control chromosomes in the GnomAD database, including 774 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 0.098 (774 hom., cov: 32)
• Consequence: NUDCD1 NM_032869.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.29
• Publications: 6 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=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.109 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.1029-1856G>A		intron	N/A	NP_116258.2	Q96RS6-1
	NUDCD1	NM_001128211.2		c.942-1856G>A		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.1029-1856G>A		intron	N/A	ENSP00000239690.4	Q96RS6-1
	NUDCD1	ENST00000427660.6	TSL:1	c.942-1856G>A		intron	N/A	ENSP00000410707.2	Q96RS6-2
	NUDCD1	ENST00000519607.5	TSL:1	n.*794-1856G>A		intron	N/A	ENSP00000430095.1	E5RGX7

Frequencies

GnomAD3 genomes AF: 0.0978 AC: 14862 AN: 151984 Hom.: 773 Cov.: 32

Gnomad AFR AF: 0.0882

Gnomad AMI AF: 0.0813

Gnomad AMR AF: 0.104

Gnomad ASJ AF: 0.110

Gnomad EAS AF: 0.0529

Gnomad SAS AF: 0.103

Gnomad FIN AF: 0.0503

Gnomad MID AF: 0.136

Gnomad NFE AF: 0.111

Gnomad OTH AF: 0.125

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

GnomAD4 genome AF: 0.0977 AC: 14866 AN: 152100 Hom.: 774 Cov.: 32 AF XY: 0.0949 AC XY: 7059 AN XY: 74358

African (AFR) AF: 0.0882 AC: 3660 AN: 41520

American (AMR) AF: 0.104 AC: 1593 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.110 AC: 382 AN: 3472

East Asian (EAS) AF: 0.0527 AC: 272 AN: 5166

South Asian (SAS) AF: 0.103 AC: 494 AN: 4812

European-Finnish (FIN) AF: 0.0503 AC: 532 AN: 10568

Middle Eastern (MID) AF: 0.139 AC: 41 AN: 294

European-Non Finnish (NFE) AF: 0.111 AC: 7556 AN: 67974

Other (OTH) AF: 0.124 AC: 262 AN: 2116

Alfa AF: 0.108 Hom.: 542

Bravo AF: 0.102

Asia WGS AF: 0.0770 AC: 273 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	0.031
DANN	Benign	0.42
PhyloP100		-3.3
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		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: rs1993593; hg19: chr8-110289581;