rs775750642
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024306.5(FA2H):c.649G>C(p.Gly217Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,202 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar.
Frequency
Consequence
NM_024306.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FA2H | NM_024306.5 | c.649G>C | p.Gly217Arg | missense_variant | 5/7 | ENST00000219368.8 | |
FA2H | XM_011523317.4 | c.649G>C | p.Gly217Arg | missense_variant | 5/6 | ||
FA2H | XM_011523319.3 | c.409G>C | p.Gly137Arg | missense_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FA2H | ENST00000219368.8 | c.649G>C | p.Gly217Arg | missense_variant | 5/7 | 1 | NM_024306.5 | P1 | |
FA2H | ENST00000569949.1 | c.451G>C | p.Gly151Arg | missense_variant | 5/5 | 4 | |||
FA2H | ENST00000567683.5 | c.399G>C | p.Pro133= | synonymous_variant, NMD_transcript_variant | 3/5 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at