rs11280

Variant names:

• chr6-41067119-T-A
• rs11280
• NM_001329686.2:c.*216A>T

Your query was ambiguous. Multiple possible variants found:

• chr6-41067119-T-A
• chr6-41067119-T-C
• chr6-41067119-T-G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_145063.4(OARD1):​c.*216A>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000056 in 178,422 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: not found (cov: 32)
  • Exomes 𝑓: 0.0000056 (0 hom.)
• Consequence: OARD1 NM_145063.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.108
• Publications: 0 publications found

Genes affected

OARD1 (HGNC:21257): (O-acyl-ADP-ribose deacylase 1) The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop. [provided by RefSeq, Jul 2016]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_145063.4. 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
	OARD1	NM_001329686.2	MANE Select	c.*216A>T		3_prime_UTR	Exon 6 of 6	NP_001316615.1
	OARD1	NM_001329684.2		c.*216A>T		3_prime_UTR	Exon 8 of 8	NP_001316613.1
	OARD1	NM_001329685.1		c.*216A>T		3_prime_UTR	Exon 6 of 6	NP_001316614.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OARD1	ENST00000424266.7	TSL:2 MANE Select	c.*216A>T		3_prime_UTR	Exon 6 of 6	ENSP00000416829.2
	OARD1	ENST00000479950.5	TSL:1	c.*216A>T		3_prime_UTR	Exon 6 of 6	ENSP00000420484.1
	OARD1	ENST00000373154.6	TSL:1	c.*301A>T		3_prime_UTR	Exon 5 of 5	ENSP00000362247.2

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome AF: 0.00000560 AC: 1 AN: 178422 Hom.: 0 Cov.: 2 AF XY: 0.0000108 AC XY: 1 AN XY: 92856

⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.00 AC: 0 AN: 5864

American (AMR) AF: 0.00 AC: 0 AN: 6480

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 6752

East Asian (EAS) AF: 0.00 AC: 0 AN: 16686

South Asian (SAS) AF: 0.00 AC: 0 AN: 8246

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 12626

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 1016

European-Non Finnish (NFE) AF: 0.00000913 AC: 1 AN: 109546

Other (OTH) AF: 0.00 AC: 0 AN: 11206

⚠️ The allele balance in gnomAD4 Exomes is highly skewed from 0.5 (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	4.2
DANN	Benign	0.75
PhyloP100		-0.11

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: rs11280; hg19: chr6-41034858;