rs1475531

chr20-14886776-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001351661.2(MACROD2):c.418+201817G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.629 in 151,980 control chromosomes in the GnomAD database, including 30,606 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 0.63 (30606 hom., cov: 32)
• Consequence: MACROD2 NM_001351661.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0470

Genes affected

MACROD2 (HGNC:16126): (mono-ADP ribosylhydrolase 2) The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]

MACROD2-AS1 (HGNC:37193): (MACROD2 antisense RNA 1)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.821 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MACROD2	NM_001351661.2	c.418+201817G>T		intron_variant		ENST00000684519.1
MACROD2-AS1	NR_110318.1	n.145-2182C>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MACROD2	ENST00000684519.1	c.418+201817G>T		intron_variant			NM_001351661.2	P2
MACROD2-AS1	ENST00000664409.1	n.155-2182C>A		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.628 AC: 95425 AN: 151862 Hom.: 30556 Cov.: 32

Gnomad AFR AF: 0.519

Gnomad AMI AF: 0.710

Gnomad AMR AF: 0.707

Gnomad ASJ AF: 0.683

Gnomad EAS AF: 0.842

Gnomad SAS AF: 0.764

Gnomad FIN AF: 0.595

Gnomad MID AF: 0.724

Gnomad NFE AF: 0.651

Gnomad OTH AF: 0.642

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

GnomAD4 genome AF: 0.629 AC: 95530 AN: 151980 Hom.: 30606 Cov.: 32 AF XY: 0.632 AC XY: 46950 AN XY: 74278

Gnomad4 AFR AF: 0.520

Gnomad4 AMR AF: 0.708

Gnomad4 ASJ AF: 0.683

Gnomad4 EAS AF: 0.842

Gnomad4 SAS AF: 0.763

Gnomad4 FIN AF: 0.595

Gnomad4 NFE AF: 0.651

Gnomad4 OTH AF: 0.647

Alfa AF: 0.654 Hom.: 15807

Bravo AF: 0.634

Asia WGS AF: 0.787 AC: 2734 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
Cadd	Benign	0.85
Dann	Benign	0.51

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

Publications

LitVar

Other links and lift over

dbSNP: rs1475531; hg19: chr20-14867422;