rs782168938
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_001363118.2(SLC52A2):c.1152C>A(p.Gly384=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000164 in 1,460,946 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G384G) has been classified as Likely benign.
Frequency
Consequence
NM_001363118.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC52A2 | NM_001363118.2 | c.1152C>A | p.Gly384= | synonymous_variant | 5/5 | ENST00000643944.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC52A2 | ENST00000643944.2 | c.1152C>A | p.Gly384= | synonymous_variant | 5/5 | NM_001363118.2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000440 AC: 11AN: 249870Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135392
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1460946Hom.: 0 Cov.: 34 AF XY: 0.00000826 AC XY: 6AN XY: 726774
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Brown-Vialetto-van Laere syndrome 2 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | May 19, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at