13-113822110-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000820.4(GAS6):āc.1730T>Cā(p.Val577Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000069 in 1,448,688 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 (ā ).
Frequency
Consequence
NM_000820.4 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 Cov.: 34
GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1448688Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 719322
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1730T>C (p.V577A) alteration is located in exon 14 (coding exon 14) of the GAS6 gene. This alteration results from a T to C substitution at nucleotide position 1730, causing the valine (V) at amino acid position 577 to be replaced by an alanine (A). 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
Publications
No publications associated with this variant yet.