17-7042022-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001370549.1(SLC16A11):c.1088G>A(p.Gly363Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000499 in 1,581,802 control chromosomes in the GnomAD database, including 2 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001370549.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC16A11 | NM_001370549.1 | c.1088G>A | p.Gly363Glu | missense_variant | Exon 4 of 5 | ENST00000574600.3 | NP_001357478.1 | |
SLC16A11 | NM_153357.3 | c.1088G>A | p.Gly363Glu | missense_variant | Exon 3 of 4 | NP_699188.2 | ||
SLC16A11 | NM_001370553.1 | c.1088G>A | p.Gly363Glu | 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.1088G>A | p.Gly363Glu | missense_variant | Exon 4 of 5 | 3 | NM_001370549.1 | ENSP00000460927.2 | ||
SLC16A11 | ENST00000573338.1 | n.678-114G>A | intron_variant | Intron 1 of 1 | 1 | |||||
SLC16A11 | ENST00000662352.3 | c.1088G>A | p.Gly363Glu | missense_variant | Exon 3 of 4 | ENSP00000499634.1 | ||||
SLC16A11 | ENST00000673828.2 | c.1088G>A | p.Gly363Glu | missense_variant | Exon 4 of 4 | ENSP00000501313.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000883 AC: 20AN: 226392Hom.: 0 AF XY: 0.000107 AC XY: 13AN XY: 121982
GnomAD4 exome AF: 0.0000511 AC: 73AN: 1429564Hom.: 2 Cov.: 32 AF XY: 0.0000693 AC XY: 49AN XY: 706620
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74428
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1160G>A (p.G387E) alteration is located in exon 3 (coding exon 3) of the SLC16A11 gene. This alteration results from a G to A substitution at nucleotide position 1160, causing the glycine (G) at amino acid position 387 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at