9-94605616-TAAGA-TAAGAAAGA

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_000507.4(FBP1):​c.706-44_706-41dupTCTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 31)

Consequence

FBP1
NM_000507.4 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.00400
Variant links:
Genes affected
FBP1 (HGNC:3606): (fructose-bisphosphatase 1) Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
FBP1NM_000507.4 linkc.706-44_706-41dupTCTT intron_variant Intron 5 of 6 ENST00000375326.9 NP_000498.2 P09467
FBP1NM_001127628.2 linkc.706-44_706-41dupTCTT intron_variant Intron 6 of 7 NP_001121100.1 P09467Q2TU34
FBP1XM_006717005.5 linkc.460-44_460-41dupTCTT intron_variant Intron 5 of 6 XP_006717068.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
FBP1ENST00000375326.9 linkc.706-41_706-40insTCTT intron_variant Intron 5 of 6 1 NM_000507.4 ENSP00000364475.5 P09467
FBP1ENST00000415431.5 linkc.706-41_706-40insTCTT intron_variant Intron 6 of 7 2 ENSP00000408025.1 P09467
FBP1ENST00000648117.1 linkc.511-41_511-40insTCTT intron_variant Intron 4 of 5 ENSP00000498145.1 A0A3B3IUC7
FBP1ENST00000682520.1 linkn.*143-41_*143-40insTCTT intron_variant Intron 5 of 6 ENSP00000507547.1 A0A804HJK9

Frequencies

GnomAD3 genomes
Cov.:
31
GnomAD4 exome
Cov.:
29
GnomAD4 genome
Cov.:
31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr9-97367898; API