17-43820977-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001932.6(MPP3):c.766C>T(p.Arg256Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000116 in 1,460,760 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R256H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001932.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MPP3 | NM_001932.6 | c.766C>T | p.Arg256Cys | missense_variant | 11/20 | ENST00000398389.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MPP3 | ENST00000398389.9 | c.766C>T | p.Arg256Cys | missense_variant | 11/20 | 1 | NM_001932.6 | P1 | |
MPP3 | ENST00000398393.5 | c.841C>T | p.Arg281Cys | missense_variant | 9/18 | 1 | |||
MPP3 | ENST00000589375.5 | n.1081C>T | non_coding_transcript_exon_variant | 12/13 | 1 | ||||
MPP3 | ENST00000496503.5 | c.766C>T | p.Arg256Cys | missense_variant, NMD_transcript_variant | 11/19 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000245 AC: 6AN: 244508Hom.: 0 AF XY: 0.0000225 AC XY: 3AN XY: 133582
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1460760Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 726704
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at