rs15017

Variant names:

• chr6-132296235-C-G
• rs15017
• NM_015529.4:c.*918G>C

Variant summary

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

The NM_015529.4(MOXD1):​c.*918G>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0604 in 152,058 control chromosomes in the GnomAD database, including 355 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 0.060 (355 hom., cov: 32)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: MOXD1 NM_015529.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.487
• Publications: 4 publications found

Genes affected

MOXD1 (HGNC:21063): (monooxygenase DBH like 1) Predicted to enable copper ion binding activity and dopamine beta-monooxygenase activity. Predicted to be involved in dopamine catabolic process; norepinephrine biosynthetic process; and octopamine biosynthetic process. Part of endoplasmic reticulum membrane. [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 (SAS) allele frequency at 95% confidence interval = 0.0995 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MOXD1	NM_015529.4	c.*918G>C		3_prime_UTR_variant	Exon 12 of 12	ENST00000367963.8	NP_056344.2
MOXD1	XM_017010714.3	c.*918G>C		3_prime_UTR_variant	Exon 12 of 12		XP_016866203.1
MOXD1	XM_047418621.1	c.*918G>C		3_prime_UTR_variant	Exon 12 of 12		XP_047274577.1
MOXD1	XM_047418622.1	c.*918G>C		3_prime_UTR_variant	Exon 12 of 12		XP_047274578.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MOXD1	ENST00000367963.8	c.*918G>C		3_prime_UTR_variant	Exon 12 of 12	1	NM_015529.4	ENSP00000356940.3
MOXD1	ENST00000336749.3	c.*918G>C		3_prime_UTR_variant	Exon 11 of 11	1		ENSP00000336998.3

Frequencies

GnomAD3 genomes AF: 0.0604 AC: 9181 AN: 151940 Hom.: 354 Cov.: 32

Gnomad AFR AF: 0.0670

Gnomad AMI AF: 0.00548

Gnomad AMR AF: 0.0344

Gnomad ASJ AF: 0.0539

Gnomad EAS AF: 0.0869

Gnomad SAS AF: 0.107

Gnomad FIN AF: 0.100

Gnomad MID AF: 0.0791

Gnomad NFE AF: 0.0517

Gnomad OTH AF: 0.0580

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 2 Hom.: 0 Cov.: 0 AC XY: 0 AN XY: 0

African (AFR) AC: 0 AN: 0

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AC: 0 AN: 0

South Asian (SAS) AC: 0 AN: 0

European-Finnish (FIN) AC: 0 AN: 0

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 2

Other (OTH) AC: 0 AN: 0

GnomAD4 genome AF: 0.0604 AC: 9183 AN: 152058 Hom.: 355 Cov.: 32 AF XY: 0.0633 AC XY: 4707 AN XY: 74324

African (AFR) AF: 0.0670 AC: 2781 AN: 41482

American (AMR) AF: 0.0343 AC: 523 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.0539 AC: 187 AN: 3470

East Asian (EAS) AF: 0.0867 AC: 448 AN: 5166

South Asian (SAS) AF: 0.107 AC: 516 AN: 4814

European-Finnish (FIN) AF: 0.100 AC: 1062 AN: 10570

Middle Eastern (MID) AF: 0.0782 AC: 23 AN: 294

European-Non Finnish (NFE) AF: 0.0517 AC: 3517 AN: 67972

Other (OTH) AF: 0.0573 AC: 121 AN: 2110

Alfa AF: 0.0584 Hom.: 39

Bravo AF: 0.0563

Asia WGS AF: 0.0770 AC: 267 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	2.6
DANN	Benign	0.45
PhyloP100		-0.49
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: rs15017; hg19: chr6-132617374;