7-100310492-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001004351.5(SPDYE3):c.458C>T(p.Thr153Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004351.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 14898Hom.: 0 Cov.: 4 FAILED QC
GnomAD3 exomes AF: 0.0000873 AC: 3AN: 34366Hom.: 0 AF XY: 0.000113 AC XY: 2AN XY: 17746
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000935 AC: 34AN: 363558Hom.: 1 Cov.: 0 AF XY: 0.000130 AC XY: 25AN XY: 192392
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 14898Hom.: 0 Cov.: 4 AF XY: 0.00 AC XY: 0AN XY: 6358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.458C>T (p.T153M) alteration is located in exon 3 (coding exon 3) of the SPDYE3 gene. This alteration results from a C to T substitution at nucleotide position 458, causing the threonine (T) at amino acid position 153 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