11-47723100-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The ENST00000263773.10(FNBP4):c.2681G>A(p.Arg894Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000558 in 1,613,462 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000263773.10 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FNBP4 | NM_015308.5 | c.2681G>A | p.Arg894Gln | missense_variant | 15/17 | ENST00000263773.10 | NP_056123.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FNBP4 | ENST00000263773.10 | c.2681G>A | p.Arg894Gln | missense_variant | 15/17 | 1 | NM_015308.5 | ENSP00000263773 | P1 | |
FNBP4 | ENST00000530207.1 | n.2799G>A | non_coding_transcript_exon_variant | 3/3 | 2 | |||||
FNBP4 | ENST00000532646.6 | n.795G>A | non_coding_transcript_exon_variant | 3/3 | 2 | |||||
FNBP4 | ENST00000526109.6 | n.229+928G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151884Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248782Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135032
GnomAD4 exome AF: 0.0000595 AC: 87AN: 1461578Hom.: 0 Cov.: 32 AF XY: 0.0000550 AC XY: 40AN XY: 727072
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151884Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74164
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 29, 2024 | The c.2681G>A (p.R894Q) alteration is located in exon 15 (coding exon 15) of the FNBP4 gene. This alteration results from a G to A substitution at nucleotide position 2681, causing the arginine (R) at amino acid position 894 to be replaced by a glutamine (Q). 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