11-65884392-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004214.5(FIBP):āc.1004G>Cā(p.Arg335Pro) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000217 in 1,613,402 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004214.5 missense, splice_region
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FIBP | NM_004214.5 | c.1004G>C | p.Arg335Pro | missense_variant, splice_region_variant | Exon 9 of 10 | ENST00000357519.9 | NP_004205.2 | |
FIBP | NM_198897.2 | c.1025G>C | p.Arg342Pro | missense_variant, splice_region_variant | Exon 9 of 10 | NP_942600.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000240 AC: 6AN: 249926Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135238
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461174Hom.: 0 Cov.: 34 AF XY: 0.0000206 AC XY: 15AN XY: 726888
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74428
ClinVar
Submissions by phenotype
Tall stature-intellectual disability-renal anomalies syndrome Uncertain:1
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at