chr4-119320842-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000134.4(FABP2):c.68G>A(p.Gly23Asp) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000884 in 1,560,746 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000134.4 missense, splice_region
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FABP2 | NM_000134.4 | c.68G>A | p.Gly23Asp | missense_variant, splice_region_variant | 2/4 | ENST00000274024.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FABP2 | ENST00000274024.4 | c.68G>A | p.Gly23Asp | missense_variant, splice_region_variant | 2/4 | 1 | NM_000134.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000658 AC: 10AN: 152066Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000163 AC: 32AN: 195860Hom.: 1 AF XY: 0.000177 AC XY: 19AN XY: 107512
GnomAD4 exome AF: 0.0000909 AC: 128AN: 1408680Hom.: 1 Cov.: 31 AF XY: 0.0000985 AC XY: 69AN XY: 700552
GnomAD4 genome ? AF: 0.0000658 AC: 10AN: 152066Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2022 | The c.68G>A (p.G23D) alteration is located in exon 2 (coding exon 2) of the FABP2 gene. This alteration results from a G to A substitution at nucleotide position 68, causing the glycine (G) at amino acid position 23 to be replaced by an aspartic acid (D). 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