rs12862108

Variant names:

• chr13-105473859-C-A
• rs12862108
• NM_172370.5:c.281+1174C>A

Your query was ambiguous. Multiple possible variants found:

• chr13-105473859-C-A
• chr13-105473859-C-G
• chr13-105473859-C-T

Variant summary

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

The NM_172370.5(DAOA):​c.281+1174C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.275 in 151,958 control chromosomes in the GnomAD database, including 5,877 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 0.28 (5877 hom., cov: 32)
• Consequence: DAOA NM_172370.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.326
• Publications: 2 publications found

Genes affected

DAOA (HGNC:21191): (D-amino acid oxidase activator) This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]

DAOA-AS1 (HGNC:30243): (DAOA antisense RNA 1)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.6).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.288 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_172370.5. 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
	DAOA	NM_172370.5	MANE Select	c.281+1174C>A		intron	N/A	NP_758958.3
	DAOA	NM_001384644.1		c.282-1118C>A		intron	N/A	NP_001371573.1
	DAOA	NM_001161812.1		c.88+1174C>A		intron	N/A	NP_001155284.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DAOA	ENST00000375936.9	TSL:1 MANE Select	c.281+1174C>A		intron	N/A	ENSP00000365103.3
	DAOA	ENST00000595812.2	TSL:1	c.88+1174C>A		intron	N/A	ENSP00000469539.1
	DAOA	ENST00000329625.9	TSL:1	c.68+1174C>A		intron	N/A	ENSP00000329951.5

Frequencies

GnomAD3 genomes AF: 0.275 AC: 41783 AN: 151840 Hom.: 5868 Cov.: 32

Gnomad AFR AF: 0.263

Gnomad AMI AF: 0.351

Gnomad AMR AF: 0.266

Gnomad ASJ AF: 0.255

Gnomad EAS AF: 0.141

Gnomad SAS AF: 0.218

Gnomad FIN AF: 0.330

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.291

Gnomad OTH AF: 0.264

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

GnomAD4 genome AF: 0.275 AC: 41821 AN: 151958 Hom.: 5877 Cov.: 32 AF XY: 0.273 AC XY: 20283 AN XY: 74252

African (AFR) AF: 0.263 AC: 10909 AN: 41490

American (AMR) AF: 0.266 AC: 4063 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.255 AC: 886 AN: 3468

East Asian (EAS) AF: 0.141 AC: 729 AN: 5172

South Asian (SAS) AF: 0.218 AC: 1052 AN: 4820

European-Finnish (FIN) AF: 0.330 AC: 3478 AN: 10538

Middle Eastern (MID) AF: 0.197 AC: 58 AN: 294

European-Non Finnish (NFE) AF: 0.291 AC: 19772 AN: 67886

Other (OTH) AF: 0.263 AC: 554 AN: 2108

Alfa AF: 0.161 Hom.: 328

Bravo AF: 0.273

Asia WGS AF: 0.191 AC: 666 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.60
CADD	Benign	10
DANN	Benign	0.85
PhyloP100		-0.33
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: rs12862108; hg19: chr13-106126208;