chrX-74421585-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS1
The NM_006517.5(SLC16A2):c.-53A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000102 in 1,179,109 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 7 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006517.5 5_prime_UTR
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 |
---|---|---|---|---|---|---|---|
SLC16A2 | NM_006517.5 | c.-53A>G | 5_prime_UTR_variant | 1/6 | ENST00000587091.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC16A2 | ENST00000587091.6 | c.-53A>G | 5_prime_UTR_variant | 1/6 | 1 | NM_006517.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000894 AC: 1AN: 111814Hom.: 0 Cov.: 23 AF XY: 0.0000293 AC XY: 1AN XY: 34078
GnomAD3 exomes AF: 0.00000716 AC: 1AN: 139645Hom.: 0 AF XY: 0.0000226 AC XY: 1AN XY: 44207
GnomAD4 exome AF: 0.0000103 AC: 11AN: 1067295Hom.: 0 Cov.: 29 AF XY: 0.0000175 AC XY: 6AN XY: 342115
GnomAD4 genome ? AF: 0.00000894 AC: 1AN: 111814Hom.: 0 Cov.: 23 AF XY: 0.0000293 AC XY: 1AN XY: 34078
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at