16-2896663-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138439.3(FLYWCH2):c.214G>A(p.Gly72Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000347 in 1,613,082 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138439.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLYWCH2 | NM_138439.3 | c.214G>A | p.Gly72Ser | missense_variant | 3/4 | ENST00000396958.8 | NP_612448.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FLYWCH2 | ENST00000396958.8 | c.214G>A | p.Gly72Ser | missense_variant | 3/4 | 1 | NM_138439.3 | ENSP00000380159.3 | ||
FLYWCH2 | ENST00000572006.1 | c.214G>A | p.Gly72Ser | missense_variant | 3/3 | 2 | ENSP00000459223.1 | |||
FLYWCH2 | ENST00000293981.10 | c.214G>A | p.Gly72Ser | missense_variant | 3/4 | 3 | ENSP00000293981.6 | |||
FLYWCH2 | ENST00000573965.1 | c.214G>A | p.Gly72Ser | missense_variant | 2/2 | 2 | ENSP00000461275.1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152108Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000327 AC: 8AN: 244738Hom.: 0 AF XY: 0.0000301 AC XY: 4AN XY: 132744
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1460974Hom.: 0 Cov.: 32 AF XY: 0.0000261 AC XY: 19AN XY: 726824
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152108Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 02, 2023 | The c.214G>A (p.G72S) alteration is located in exon 3 (coding exon 1) of the FLYWCH2 gene. This alteration results from a G to A substitution at nucleotide position 214, causing the glycine (G) at amino acid position 72 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