rs12849161
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_006517.5(SLC16A2):c.873A>C(p.Pro291=) 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. P291P) has been classified as Likely benign.
Frequency
Consequence
NM_006517.5 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 |
---|---|---|---|---|---|---|---|
SLC16A2 | NM_006517.5 | c.873A>C | p.Pro291= | synonymous_variant | 3/6 | ENST00000587091.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC16A2 | ENST00000587091.6 | c.873A>C | p.Pro291= | synonymous_variant | 3/6 | 1 | NM_006517.5 | P1 | |
SLC16A2 | ENST00000590447.1 | c.315A>C | p.Pro105= | synonymous_variant | 2/4 | 5 | |||
SLC16A2 | ENST00000636771.1 | c.*574A>C | 3_prime_UTR_variant, NMD_transcript_variant | 4/7 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 22
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 22
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at