chr1-59457020-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018291.5(FGGY):c.614G>A(p.Ser205Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000836 in 1,614,132 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S205C) has been classified as Uncertain significance.
Frequency
Consequence
NM_018291.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FGGY | NM_018291.5 | c.614G>A | p.Ser205Asn | missense_variant | 6/16 | ENST00000303721.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FGGY | ENST00000303721.12 | c.614G>A | p.Ser205Asn | missense_variant | 6/16 | 1 | NM_018291.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000155 AC: 39AN: 251408Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135874
GnomAD4 exome AF: 0.0000718 AC: 105AN: 1461810Hom.: 1 Cov.: 30 AF XY: 0.0000770 AC XY: 56AN XY: 727210
GnomAD4 genome AF: 0.000197 AC: 30AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2021 | The c.614G>A (p.S205N) alteration is located in exon 6 (coding exon 5) of the FGGY gene. This alteration results from a G to A substitution at nucleotide position 614, causing the serine (S) at amino acid position 205 to be replaced by an asparagine (N). 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