6-25826464-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005074.5(SLC17A1):c.204A>G(p.Ile68Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000751 in 1,597,638 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005074.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC17A1 | NM_005074.5 | c.204A>G | p.Ile68Met | missense_variant | 3/13 | ENST00000244527.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC17A1 | ENST00000244527.10 | c.204A>G | p.Ile68Met | missense_variant | 3/13 | 5 | NM_005074.5 | P1 | |
SLC17A1 | ENST00000468082.1 | c.204A>G | p.Ile68Met | missense_variant | 2/10 | 1 | |||
SLC17A1 | ENST00000476801.5 | c.204A>G | p.Ile68Met | missense_variant | 3/12 | 2 | P1 | ||
SLC17A1 | ENST00000377886.6 | c.204A>G | p.Ile68Met | missense_variant, NMD_transcript_variant | 3/12 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000424 AC: 10AN: 235796Hom.: 0 AF XY: 0.0000235 AC XY: 3AN XY: 127460
GnomAD4 exome AF: 0.00000692 AC: 10AN: 1445450Hom.: 0 Cov.: 30 AF XY: 0.00000556 AC XY: 4AN XY: 718916
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152188Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 05, 2023 | The c.204A>G (p.I68M) alteration is located in exon 3 (coding exon 2) of the SLC17A1 gene. This alteration results from a A to G substitution at nucleotide position 204, causing the isoleucine (I) at amino acid position 68 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at