NM_022151.5:c.*31T>C

Variant names:

• chr14-93183156-A-G
• rs1046099
• NM_022151.5:c.*31T>C

Variant summary

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

The NM_022151.5(MOAP1):​c.*31T>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 0.683 in 1,564,022 control chromosomes in the GnomAD database, including 366,217 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 0.69 (36609 hom., cov: 32)
  • Exomes 𝑓: 0.68 (329608 hom.)
• Consequence: MOAP1 NM_022151.5 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.139
• Publications: 26 publications found

Genes affected

MOAP1 (HGNC:16658): (modulator of apoptosis 1) The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008]

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 (AFR) allele frequency at 95% confidence interval = 0.744 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_022151.5. 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
	MOAP1	NM_022151.5	MANE Select	c.*31T>C		3_prime_UTR	Exon 3 of 3	NP_071434.2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MOAP1	ENST00000298894.5	TSL:1 MANE Select	c.*31T>C		3_prime_UTR	Exon 3 of 3	ENSP00000298894.4	Q96BY2
	MOAP1	ENST00000556883.1	TSL:2	c.*31T>C		3_prime_UTR	Exon 2 of 2	ENSP00000451594.1	Q96BY2
	MOAP1	ENST00000865602.1		c.*31T>C		3_prime_UTR	Exon 2 of 2	ENSP00000535661.1

Frequencies

GnomAD3 genomes AF: 0.692 AC: 105133 AN: 151950 Hom.: 36582 Cov.: 32

Gnomad AFR AF: 0.751

Gnomad AMI AF: 0.791

Gnomad AMR AF: 0.634

Gnomad ASJ AF: 0.611

Gnomad EAS AF: 0.693

Gnomad SAS AF: 0.741

Gnomad FIN AF: 0.655

Gnomad MID AF: 0.722

Gnomad NFE AF: 0.673

Gnomad OTH AF: 0.708

GnomAD2 exomes AF: 0.678 AC: 143615 AN: 211968 AF XY: 0.680

Gnomad AFR exome AF: 0.752

Gnomad AMR exome AF: 0.628

Gnomad ASJ exome AF: 0.608

Gnomad EAS exome AF: 0.697

Gnomad FIN exome AF: 0.667

Gnomad NFE exome AF: 0.672

Gnomad OTH exome AF: 0.682

GnomAD4 exome AF: 0.683 AC: 963681 AN: 1411954 Hom.: 329608 Cov.: 53 AF XY: 0.683 AC XY: 476725 AN XY: 697828

African (AFR) AF: 0.757 AC: 24086 AN: 31822

American (AMR) AF: 0.637 AC: 23995 AN: 37696

Ashkenazi Jewish (ASJ) AF: 0.606 AC: 13644 AN: 22500

East Asian (EAS) AF: 0.713 AC: 28066 AN: 39340

South Asian (SAS) AF: 0.726 AC: 56516 AN: 77826

European-Finnish (FIN) AF: 0.668 AC: 34231 AN: 51282

Middle Eastern (MID) AF: 0.715 AC: 3492 AN: 4886

European-Non Finnish (NFE) AF: 0.680 AC: 739734 AN: 1088442

Other (OTH) AF: 0.686 AC: 39917 AN: 58160

GnomAD4 genome AF: 0.692 AC: 105216 AN: 152068 Hom.: 36609 Cov.: 32 AF XY: 0.688 AC XY: 51146 AN XY: 74336

African (AFR) AF: 0.751 AC: 31139 AN: 41468

American (AMR) AF: 0.634 AC: 9690 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.611 AC: 2119 AN: 3470

East Asian (EAS) AF: 0.693 AC: 3586 AN: 5172

South Asian (SAS) AF: 0.740 AC: 3563 AN: 4816

European-Finnish (FIN) AF: 0.655 AC: 6926 AN: 10568

Middle Eastern (MID) AF: 0.714 AC: 210 AN: 294

European-Non Finnish (NFE) AF: 0.673 AC: 45770 AN: 67978

Other (OTH) AF: 0.708 AC: 1493 AN: 2108

Alfa AF: 0.675 Hom.: 60733

Bravo AF: 0.696

Asia WGS AF: 0.697 AC: 2425 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.5
DANN	Benign	0.74
PhyloP100		-0.14
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: rs1046099; hg19: chr14-93649501;