3-179067571-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_022470.4(ZMAT3):c.182G>A(p.Cys61Tyr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C61S) has been classified as Likely benign.
Frequency
Consequence
NM_022470.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZMAT3 | NM_022470.4 | c.182G>A | p.Cys61Tyr | missense_variant | 2/6 | ENST00000311417.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZMAT3 | ENST00000311417.7 | c.182G>A | p.Cys61Tyr | missense_variant | 2/6 | 1 | NM_022470.4 | A1 | |
ZMAT3 | ENST00000652290.1 | c.182G>A | p.Cys61Tyr | missense_variant | 2/10 | ||||
ZMAT3 | ENST00000432729.5 | c.182G>A | p.Cys61Tyr | missense_variant | 3/7 | 2 | P3 | ||
ZMAT3 | ENST00000414084.1 | c.182G>A | p.Cys61Tyr | missense_variant | 2/4 | 4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Malignant tumor of prostate Uncertain:1
Uncertain significance, no assertion criteria provided | literature only | Science for Life laboratory, Karolinska Institutet | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at