5-73058492-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_138782.3(FCHO2):c.1313C>A(p.Ser438Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000658 in 151,944 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138782.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCHO2 | ENST00000430046.7 | c.1313C>A | p.Ser438Tyr | missense_variant | Exon 17 of 26 | 1 | NM_138782.3 | ENSP00000393776.2 | ||
FCHO2 | ENST00000512348.5 | c.1214C>A | p.Ser405Tyr | missense_variant | Exon 16 of 25 | 2 | ENSP00000427296.1 | |||
FCHO2 | ENST00000508431.1 | n.72C>A | non_coding_transcript_exon_variant | Exon 1 of 5 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 151944Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1380600Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 685420
GnomAD4 genome AF: 0.0000658 AC: 10AN: 151944Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74250
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1313C>A (p.S438Y) alteration is located in exon 17 (coding exon 17) of the FCHO2 gene. This alteration results from a C to A substitution at nucleotide position 1313, causing the serine (S) at amino acid position 438 to be replaced by a tyrosine (Y). 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