19-418975-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012435.3(SHC2):c.1702G>A(p.Ala568Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000296 in 1,585,858 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012435.3 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: 0.0000723 AC: 11AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000198 AC: 4AN: 202292Hom.: 0 AF XY: 0.0000183 AC XY: 2AN XY: 109554
GnomAD4 exome AF: 0.0000251 AC: 36AN: 1433506Hom.: 0 Cov.: 30 AF XY: 0.0000253 AC XY: 18AN XY: 710362
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152352Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74510
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1702G>A (p.A568T) alteration is located in exon 12 (coding exon 12) of the SHC2 gene. This alteration results from a G to A substitution at nucleotide position 1702, causing the alanine (A) at amino acid position 568 to be replaced by a threonine (T). 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