NM_018008.4:c.1324A>G
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018008.4(FEZF2):c.1324A>G(p.Ser442Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018008.4 missense
Scores
Clinical Significance
Conservation
Publications
- complex neurodevelopmental disorderInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FEZF2 | NM_018008.4 | c.1324A>G | p.Ser442Gly | missense_variant | Exon 5 of 5 | ENST00000283268.8 | NP_060478.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FEZF2 | ENST00000283268.8 | c.1324A>G | p.Ser442Gly | missense_variant | Exon 5 of 5 | 1 | NM_018008.4 | ENSP00000283268.3 | ||
FEZF2 | ENST00000475839.1 | c.1324A>G | p.Ser442Gly | missense_variant | Exon 4 of 4 | 1 | ENSP00000418804.1 | |||
FEZF2 | ENST00000486811.5 | c.1324A>G | p.Ser442Gly | missense_variant | Exon 6 of 6 | 5 | ENSP00000418589.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727246 show subpopulations
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1324A>G (p.S442G) alteration is located in exon 5 (coding exon 4) of the FEZF2 gene. This alteration results from a A to G substitution at nucleotide position 1324, causing the serine (S) at amino acid position 442 to be replaced by a glycine (G). 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