rs710080

Variant names:

• chr16-79278-A-G
• rs710080
• NM_001015052.3:c.25-147A>G

Your query was ambiguous. Multiple possible variants found:

• chr16-79278-A-G
• chr16-79278-A-T

Variant summary

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

The NM_002434.4(MPG):​c.-15A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0626 in 1,569,880 control chromosomes in the GnomAD database, including 19,906 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 0.21 (9378 hom., cov: 33)
  • Exomes 𝑓: 0.046 (10528 hom.)
• Consequence: MPG NM_002434.4 5_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.42
• Publications: 9 publications found

Genes affected

MPG (HGNC:7211): (N-methylpurine DNA glycosylase) Predicted to enable alkylbase DNA N-glycosylase activity. Predicted to be involved in base-excision repair. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

MPG Gene-Disease associations (from GenCC):

• schizophrenia

  Inheritance: Unknown Classification: NO_KNOWN Submitted by: Labcorp Genetics (formerly Invitae)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.648 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_002434.4. 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
	MPG	NM_001015052.3	MANE Select	c.25-147A>G		intron	N/A	NP_001015052.1	P29372-4
	MPG	NM_002434.4		c.-15A>G		5_prime_UTR	Exon 2 of 5	NP_002425.2	Q1W6H1
	MPG	NM_001015054.3		c.-12-147A>G		intron	N/A	NP_001015054.1	P29372-5

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MPG	ENST00000356432.8	TSL:1 MANE Select	c.25-147A>G		intron	N/A	ENSP00000348809.4	P29372-4
	MPG	ENST00000219431.4	TSL:3	c.-15A>G		5_prime_UTR	Exon 2 of 5	ENSP00000219431.4	P29372-1
	MPG	ENST00000397817.5	TSL:2	c.-12-147A>G		intron	N/A	ENSP00000380918.1	P29372-5

Frequencies

GnomAD3 genomes AF: 0.214 AC: 32491 AN: 152146 Hom.: 9330 Cov.: 33

Gnomad AFR AF: 0.654

Gnomad AMI AF: 0.00219

Gnomad AMR AF: 0.148

Gnomad ASJ AF: 0.00893

Gnomad EAS AF: 0.112

Gnomad SAS AF: 0.183

Gnomad FIN AF: 0.0439

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.0118

Gnomad OTH AF: 0.171

GnomAD2 exomes AF: 0.107 AC: 19497 AN: 182872 AF XY: 0.0965

Gnomad AFR exome AF: 0.675

Gnomad AMR exome AF: 0.163

Gnomad ASJ exome AF: 0.00880

Gnomad EAS exome AF: 0.113

Gnomad FIN exome AF: 0.0341

Gnomad NFE exome AF: 0.0119

Gnomad OTH exome AF: 0.0663

GnomAD4 exome AF: 0.0464 AC: 65741 AN: 1417616 Hom.: 10528 Cov.: 32 AF XY: 0.0474 AC XY: 33230 AN XY: 701638

African (AFR) AF: 0.690 AC: 22287 AN: 32304

American (AMR) AF: 0.164 AC: 6144 AN: 37456

Ashkenazi Jewish (ASJ) AF: 0.00757 AC: 193 AN: 25480

East Asian (EAS) AF: 0.129 AC: 4803 AN: 37202

South Asian (SAS) AF: 0.165 AC: 13596 AN: 82526

European-Finnish (FIN) AF: 0.0320 AC: 1612 AN: 50394

Middle Eastern (MID) AF: 0.0789 AC: 451 AN: 5714

European-Non Finnish (NFE) AF: 0.0111 AC: 12027 AN: 1087818

Other (OTH) AF: 0.0788 AC: 4628 AN: 58722

GnomAD4 genome AF: 0.214 AC: 32609 AN: 152264 Hom.: 9378 Cov.: 33 AF XY: 0.213 AC XY: 15897 AN XY: 74488

African (AFR) AF: 0.654 AC: 27152 AN: 41502

American (AMR) AF: 0.149 AC: 2284 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.00893 AC: 31 AN: 3472

East Asian (EAS) AF: 0.112 AC: 583 AN: 5186

South Asian (SAS) AF: 0.183 AC: 882 AN: 4826

European-Finnish (FIN) AF: 0.0439 AC: 467 AN: 10626

Middle Eastern (MID) AF: 0.122 AC: 36 AN: 294

European-Non Finnish (NFE) AF: 0.0118 AC: 800 AN: 68032

Other (OTH) AF: 0.176 AC: 372 AN: 2114

Alfa AF: 0.116 Hom.: 4051

Bravo AF: 0.240

Asia WGS AF: 0.214 AC: 742 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.17
DANN	Benign	0.34
PhyloP100		-2.4
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: rs710080; hg19: chr16-129277; COSMIC: COSV54738355; COSMIC: COSV54738355;