9-13189018-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_001378778.1(MPDZ):c.2155-25A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0151 in 1,593,518 control chromosomes in the GnomAD database, including 244 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 0.013 ( 27 hom., cov: 32)
Exomes 𝑓: 0.015 ( 217 hom. )
Consequence
MPDZ
NM_001378778.1 intron
NM_001378778.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.213
Genes affected
MPDZ (HGNC:7208): (multiple PDZ domain crumbs cell polarity complex component) The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
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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=-0.67).
BS1
?
Variant frequency is greater than expected in population amr. gnomad4 allele frequency = 0.0127 (1925/152138) while in subpopulation AMR AF= 0.0173 (264/15264). AF 95% confidence interval is 0.0163. There are 27 homozygotes in gnomad4. There are 927 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 27 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MPDZ | NM_001378778.1 | c.2155-25A>G | intron_variant | ENST00000319217.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MPDZ | ENST00000319217.12 | c.2155-25A>G | intron_variant | 5 | NM_001378778.1 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0127 AC: 1927AN: 152020Hom.: 27 Cov.: 32
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GnomAD3 exomes AF: 0.0137 AC: 3257AN: 237858Hom.: 47 AF XY: 0.0140 AC XY: 1814AN XY: 129126
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GnomAD4 exome AF: 0.0154 AC: 22197AN: 1441380Hom.: 217 Cov.: 27 AF XY: 0.0154 AC XY: 11046AN XY: 715788
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GnomAD4 genome ? AF: 0.0127 AC: 1925AN: 152138Hom.: 27 Cov.: 32 AF XY: 0.0125 AC XY: 927AN XY: 74348
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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
La Branchor
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at