chr19-36003420-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001039876.3(SYNE4):c.1132G>A(p.Gly378Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000372 in 1,613,786 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★). Synonymous variant affecting the same amino acid position (i.e. G378G) has been classified as Likely benign.
Frequency
Consequence
NM_001039876.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SYNE4 | NM_001039876.3 | c.1132G>A | p.Gly378Arg | missense_variant | Exon 8 of 8 | ENST00000324444.9 | NP_001034965.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152156Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000565 AC: 14AN: 247692Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134532
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461630Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727104
GnomAD4 genome AF: 0.000210 AC: 32AN: 152156Hom.: 0 Cov.: 31 AF XY: 0.000242 AC XY: 18AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1132G>A (p.G378R) alteration is located in exon 8 (coding exon 8) of the SYNE4 gene. This alteration results from a G to A substitution at nucleotide position 1132, causing the glycine (G) at amino acid position 378 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
BS1_supporting -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at