chr3-48469373-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016479.6(SHISA5):c.631G>A(p.Glu211Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000101 in 1,587,668 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016479.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152032Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000129 AC: 3AN: 232878Hom.: 0 AF XY: 0.00000800 AC XY: 1AN XY: 124992
GnomAD4 exome AF: 0.0000104 AC: 15AN: 1435636Hom.: 0 Cov.: 31 AF XY: 0.0000127 AC XY: 9AN XY: 710550
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152032Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74248
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.631G>A (p.E211K) alteration is located in exon 5 (coding exon 5) of the SHISA5 gene. This alteration results from a G to A substitution at nucleotide position 631, causing the glutamic acid (E) at amino acid position 211 to be replaced by a lysine (K). 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