21-42382099-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001256317.3(TMPRSS3):c.918C>G(p.Ala306=) variant causes a synonymous 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. Synonymous variant affecting the same amino acid position (i.e. A306A) has been classified as Likely benign.
Frequency
Consequence
NM_001256317.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMPRSS3 | NM_001256317.3 | c.918C>G | p.Ala306= | synonymous_variant | 9/13 | ENST00000644384.2 | |
TMPRSS3 | NM_024022.4 | c.918C>G | p.Ala306= | synonymous_variant | 9/13 | ||
TMPRSS3 | NM_032405.2 | c.918C>G | p.Ala306= | synonymous_variant | 9/9 | ||
TMPRSS3 | NM_032404.3 | c.537C>G | p.Ala179= | synonymous_variant | 6/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMPRSS3 | ENST00000644384.2 | c.918C>G | p.Ala306= | synonymous_variant | 9/13 | NM_001256317.3 | A1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 249060Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134822
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at