12-7827587-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001286234.2(SLC2A14):c.772G>A(p.Val258Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000236 in 1,613,034 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (★).
Frequency
Consequence
NM_001286234.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151732Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.0000679 AC: 17AN: 250504Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135490
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461302Hom.: 0 Cov.: 35 AF XY: 0.0000234 AC XY: 17AN XY: 726998
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151732Hom.: 0 Cov.: 28 AF XY: 0.0000405 AC XY: 3AN XY: 74092
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 30, 2023 | The c.841G>A (p.V281M) alteration is located in exon 8 (coding exon 6) of the SLC2A14 gene. This alteration results from a G to A substitution at nucleotide position 841, causing the valine (V) at amino acid position 281 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