rs77010315
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP3BP4_StrongBS2
The NM_181776.3(SLC36A2):c.260G>T(p.Gly87Val) variant causes a missense change. The variant allele was found at a frequency of 0.0105 in 1,613,846 control chromosomes in the GnomAD database, including 119 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G87S) has been classified as Uncertain significance.
Frequency
Consequence
NM_181776.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC36A2 | NM_181776.3 | c.260G>T | p.Gly87Val | missense_variant | 3/10 | ENST00000335244.9 | |
SLC36A2 | XM_005268377.5 | c.260G>T | p.Gly87Val | missense_variant | 3/10 | ||
SLC36A2 | XM_017009083.3 | c.260G>T | p.Gly87Val | missense_variant | 3/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC36A2 | ENST00000335244.9 | c.260G>T | p.Gly87Val | missense_variant | 3/10 | 1 | NM_181776.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00861 AC: 1309AN: 151992Hom.: 14 Cov.: 32
GnomAD3 exomes AF: 0.00935 AC: 2350AN: 251320Hom.: 22 AF XY: 0.00976 AC XY: 1325AN XY: 135812
GnomAD4 exome AF: 0.0107 AC: 15676AN: 1461736Hom.: 105 Cov.: 32 AF XY: 0.0108 AC XY: 7856AN XY: 727184
GnomAD4 genome ? AF: 0.00859 AC: 1306AN: 152110Hom.: 14 Cov.: 32 AF XY: 0.00888 AC XY: 660AN XY: 74334
ClinVar
Submissions by phenotype
Hyperglycinuria Uncertain:1Benign:1Other:1
Benign, no assertion criteria provided | curation | Reproductive Health Research and Development, BGI Genomics | Jan 06, 2020 | NM_181776.2:c.260G>T in the SLC36A2 gene has an allele frequency of 0.041 in Ashkenazi Jewish subpopulation in the gnomAD database, including 24 homozygous occurrences. Broer et al. reported this variant in a patient with iminoglycinuria . However, iminoglycinuria was only observed when homozygous SLC36A2 G87V was combined with SLC6A20 T199M (PMID: 19033659). Pathogenic computational verdict because pathogenic predictions from DANN, EIGEN, FATHMM-MKL, MutationAssessor, MutationTaster, PrimateAI and SIFT. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1; BS2; PP3. - |
Affects, no assertion criteria provided | literature only | OMIM | Dec 01, 2008 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2022 | SLC36A2: BS1, BS2 - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 15, 2024 | - - |
Iminoglycinuria Other:1
Affects, no assertion criteria provided | literature only | OMIM | Dec 01, 2008 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at