GeneBe

9-94605616-TAAGA-TAAGAAAGA

Position:

Variant summary

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

The NM_000507.4(FBP1):​c.706-41_706-40insTCTT 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/exons MANE UniProt
FBP1NM_000507.4 linkuse as main transcriptc.706-41_706-40insTCTT intron_variant ENST00000375326.9
FBP1NM_001127628.2 linkuse as main transcriptc.706-41_706-40insTCTT intron_variant
FBP1XM_006717005.5 linkuse as main transcriptc.460-41_460-40insTCTT intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
FBP1ENST00000375326.9 linkuse as main transcriptc.706-41_706-40insTCTT intron_variant 1 NM_000507.4 P1
FBP1ENST00000415431.5 linkuse as main transcriptc.706-41_706-40insTCTT intron_variant 2 P1
FBP1ENST00000648117.1 linkuse as main transcriptc.511-41_511-40insTCTT intron_variant
FBP1ENST00000682520.1 linkuse as main transcriptc.*143-41_*143-40insTCTT intron_variant, NMD_transcript_variant

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