chr17-7042413-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001370549.1(SLC16A11):āc.697G>Cā(p.Gly233Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000071 in 1,407,640 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.
Frequency
Consequence
NM_001370549.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC16A11 | NM_001370549.1 | c.697G>C | p.Gly233Arg | missense_variant | Exon 4 of 5 | ENST00000574600.3 | NP_001357478.1 | |
SLC16A11 | NM_153357.3 | c.697G>C | p.Gly233Arg | missense_variant | Exon 3 of 4 | NP_699188.2 | ||
SLC16A11 | NM_001370553.1 | c.697G>C | p.Gly233Arg | missense_variant | Exon 4 of 4 | NP_001357482.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC16A11 | ENST00000574600.3 | c.697G>C | p.Gly233Arg | missense_variant | Exon 4 of 5 | 3 | NM_001370549.1 | ENSP00000460927.2 | ||
SLC16A11 | ENST00000573338.1 | n.678-505G>C | intron_variant | Intron 1 of 1 | 1 | |||||
SLC16A11 | ENST00000662352.3 | c.697G>C | p.Gly233Arg | missense_variant | Exon 3 of 4 | ENSP00000499634.1 | ||||
SLC16A11 | ENST00000673828.2 | c.697G>C | p.Gly233Arg | missense_variant | Exon 4 of 4 | ENSP00000501313.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.10e-7 AC: 1AN: 1407640Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 695232
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.