rs1046099
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
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
NM_022151.5 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.139
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]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -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.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MOAP1 | NM_022151.5 | c.*31T>C | 3_prime_UTR_variant | 3/3 | ENST00000298894.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MOAP1 | ENST00000298894.5 | c.*31T>C | 3_prime_UTR_variant | 3/3 | 1 | NM_022151.5 | P1 | ||
MOAP1 | ENST00000556883.1 | c.*31T>C | 3_prime_UTR_variant | 2/2 | 2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.692 AC: 105133AN: 151950Hom.: 36582 Cov.: 32
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GnomAD3 exomes AF: 0.678 AC: 143615AN: 211968Hom.: 48763 AF XY: 0.680 AC XY: 77071AN XY: 113300
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GnomAD4 exome AF: 0.683 AC: 963681AN: 1411954Hom.: 329608 Cov.: 53 AF XY: 0.683 AC XY: 476725AN XY: 697828
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GnomAD4 genome ? AF: 0.692 AC: 105216AN: 152068Hom.: 36609 Cov.: 32 AF XY: 0.688 AC XY: 51146AN XY: 74336
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at