rs72552271
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS1
The NM_003051.4(SLC16A1):c.1414G>A(p.Gly472Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000812 in 1,614,162 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_003051.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC16A1 | NM_003051.4 | c.1414G>A | p.Gly472Arg | missense_variant | 5/5 | ENST00000369626.8 | |
SLC16A1 | NM_001166496.2 | c.1414G>A | p.Gly472Arg | missense_variant | 5/5 | ||
SLC16A1 | XM_047428789.1 | c.1414G>A | p.Gly472Arg | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC16A1 | ENST00000369626.8 | c.1414G>A | p.Gly472Arg | missense_variant | 5/5 | 1 | NM_003051.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000388 AC: 59AN: 152166Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251476Hom.: 2 AF XY: 0.0000736 AC XY: 10AN XY: 135912
GnomAD4 exome AF: 0.0000486 AC: 71AN: 1461878Hom.: 1 Cov.: 34 AF XY: 0.0000426 AC XY: 31AN XY: 727238
GnomAD4 genome AF: 0.000394 AC: 60AN: 152284Hom.: 1 Cov.: 32 AF XY: 0.000309 AC XY: 23AN XY: 74466
ClinVar
Submissions by phenotype
Metabolic myopathy due to lactate transporter defect Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jan 01, 2000 | - - |
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Jun 18, 2015 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 25, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at