13-113821970-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_000820.4(GAS6):c.1870G>A(p.Gly624Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000217 in 1,383,530 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_000820.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 0.00000217 AC: 3AN: 1383530Hom.: 0 Cov.: 30 AF XY: 0.00000147 AC XY: 1AN XY: 681614
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1870G>A (p.G624S) alteration is located in exon 14 (coding exon 14) of the GAS6 gene. This alteration results from a G to A substitution at nucleotide position 1870, causing the glycine (G) at amino acid position 624 to be replaced by a serine (S). 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