rs606231172
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The ENST00000429288.2(SLC16A1):c.-45+458_-45+459insACGCCGGTCACGTGGCGGGGTGGGG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Genomes: not found (cov: 31)
Consequence
SLC16A1
ENST00000429288.2 intron
ENST00000429288.2 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: -0.732
Genes affected
SLC16A1 (HGNC:10922): (solute carrier family 16 member 1) The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 3 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
PP5
Variant 1-112956380-C-CCCCCACCCCGCCACGTGACCGGCGT is Pathogenic according to our data. Variant chr1-112956380-C-CCCCCACCCCGCCACGTGACCGGCGT is described in ClinVar as [Pathogenic]. Clinvar id is 8917.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC16A1-AS1 | NR_103743.1 | upstream_gene_variant | ||||||
SLC16A1-AS1 | NR_103744.1 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC16A1 | ENST00000429288.2 | c.-45+458_-45+459insACGCCGGTCACGTGGCGGGGTGGGG | intron_variant | 3 | ENSP00000397106 | P1 | ||||
SLC16A1 | ENST00000679803.1 | c.-45+1157_-45+1158insACGCCGGTCACGTGGCGGGGTGGGG | intron_variant | ENSP00000505879 | P1 | |||||
SLC16A1-AS1 | ENST00000416193.6 | upstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 genomes
Cov.:
31
GnomAD4 exome Cov.: 0
GnomAD4 exome
Cov.:
0
GnomAD4 genome Cov.: 31
GnomAD4 genome
Cov.:
31
ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Exercise-induced hyperinsulinism Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Sep 01, 2007 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at