2-74135948-CTTTTTTT-CTTTT

Variant summary

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

The NM_212552.3(BOLA3):​c.259-293_259-291delAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.00010 ( 0 hom., cov: 0)

Consequence

BOLA3
NM_212552.3 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.489
Variant links:
Genes affected
BOLA3 (HGNC:24415): (bolA family member 3) This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
BOLA3NM_212552.3 linkc.259-293_259-291delAAA intron_variant Intron 3 of 3 ENST00000327428.10 NP_997717.2 Q53S33-1
BOLA3NM_001035505.2 linkc.170-293_170-291delAAA intron_variant Intron 2 of 2 NP_001030582.1 Q53S33-2Q8N338

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
BOLA3ENST00000327428.10 linkc.259-293_259-291delAAA intron_variant Intron 3 of 3 1 NM_212552.3 ENSP00000331369.5 Q53S33-1

Frequencies

GnomAD3 genomes
AF:
0.000104
AC:
14
AN:
134694
Hom.:
0
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.0000551
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.000739
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.000110
Gnomad OTH
AF:
0.00
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.000104
AC:
14
AN:
134678
Hom.:
0
Cov.:
0
AF XY:
0.000124
AC XY:
8
AN XY:
64300
show subpopulations
Gnomad4 AFR
AF:
0.0000550
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.000739
Gnomad4 NFE
AF:
0.000110
Gnomad4 OTH
AF:
0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs55654893; hg19: chr2-74363075; API