chr8-22098210-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_022749.7(FHIP2B):āc.668A>Gā(p.Gln223Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000699 in 1,431,554 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_022749.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FHIP2B | NM_022749.7 | c.668A>G | p.Gln223Arg | missense_variant | 6/17 | ENST00000289921.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FHIP2B | ENST00000289921.8 | c.668A>G | p.Gln223Arg | missense_variant | 6/17 | 5 | NM_022749.7 | P1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 6.99e-7 AC: 1AN: 1431554Hom.: 0 Cov.: 63 AF XY: 0.00000141 AC XY: 1AN XY: 709264
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.