GeneBe

rs135066

Positions:

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong

The NM_001044370.2(MPPED1):​c.406+2648T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: 33)

Consequence

MPPED1
NM_001044370.2 intron

Scores

1

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.127
Variant links:
Genes affected
MPPED1 (HGNC:1306): (metallophosphoesterase domain containing 1) Predicted to enable hydrolase activity. [provided by Alliance of Genome Resources, Apr 2022]

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ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
MPPED1NM_001044370.2 linkuse as main transcriptc.406+2648T>A intron_variant ENST00000443721.2 NP_001037835.1
MPPED1NM_001362786.2 linkuse as main transcriptc.406+2648T>A intron_variant NP_001349715.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
MPPED1ENST00000443721.2 linkuse as main transcriptc.406+2648T>A intron_variant 2 NM_001044370.2 ENSP00000400686 P1O15442-1
MPPED1ENST00000417669.6 linkuse as main transcriptc.406+2648T>A intron_variant 5 ENSP00000388137 P1O15442-1

Frequencies

GnomAD3 genomes
Cov.:
33
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
Cov.:
33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.90
CADD
Benign
1.0

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs135066; hg19: chr22-43833782; API