rs75493593
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001370549.1(SLC16A11):āc.1255C>Gā(p.Pro419Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000682 in 1,613,450 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001370549.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC16A11 | NM_001370549.1 | c.1255C>G | p.Pro419Ala | missense_variant | 5/5 | ENST00000574600.3 | NP_001357478.1 | |
SLC16A11 | NM_153357.3 | c.1255C>G | p.Pro419Ala | missense_variant | 4/4 | NP_699188.2 | ||
SLC16A11 | NM_001370553.1 | c.*163C>G | 3_prime_UTR_variant | 4/4 | NP_001357482.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC16A11 | ENST00000574600.3 | c.1255C>G | p.Pro419Ala | missense_variant | 5/5 | 3 | NM_001370549.1 | ENSP00000460927 | P1 | |
SLC16A11 | ENST00000573338.1 | n.818C>G | non_coding_transcript_exon_variant | 2/2 | 1 | |||||
SLC16A11 | ENST00000662352.3 | c.1255C>G | p.Pro419Ala | missense_variant | 4/4 | ENSP00000499634 | P1 | |||
SLC16A11 | ENST00000673828.2 | c.*163C>G | 3_prime_UTR_variant | 4/4 | ENSP00000501313 |
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 152058Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248848Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135292
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461392Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726984
GnomAD4 genome AF: 0.0000658 AC: 10AN: 152058Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74268
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at