6-127813266-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001010923.3(THEMIS):c.1375G>A(p.Val459Met) variant causes a missense change. The variant allele was found at a frequency of 0.000163 in 1,614,108 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001010923.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000103 AC: 26AN: 251306Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135816
GnomAD4 exome AF: 0.000170 AC: 248AN: 1461848Hom.: 0 Cov.: 31 AF XY: 0.000171 AC XY: 124AN XY: 727222
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152260Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74440
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1375G>A (p.V459M) alteration is located in exon 4 (coding exon 4) of the THEMIS gene. This alteration results from a G to A substitution at nucleotide position 1375, causing the valine (V) at amino acid position 459 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