11-65884450-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004214.5(FIBP):c.946G>A(p.Asp316Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000157 in 1,614,046 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004214.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152174Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251260Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135858
GnomAD4 exome AF: 0.000157 AC: 230AN: 1461872Hom.: 0 Cov.: 34 AF XY: 0.000129 AC XY: 94AN XY: 727234
GnomAD4 genome AF: 0.000151 AC: 23AN: 152174Hom.: 0 Cov.: 31 AF XY: 0.000175 AC XY: 13AN XY: 74348
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.967G>A (p.D323N) alteration is located in exon 9 (coding exon 9) of the FIBP gene. This alteration results from a G to A substitution at nucleotide position 967, causing the aspartic acid (D) at amino acid position 323 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