rs5818251
Positions:
- chr16-79599908-TGCCGCCGCCGCCGCC-T
- chr16-79599908-TGCCGCCGCCGCCGCC-TGCC
- chr16-79599908-TGCCGCCGCCGCCGCC-TGCCGCC
- chr16-79599908-TGCCGCCGCCGCCGCC-TGCCGCCGCC
- chr16-79599908-TGCCGCCGCCGCCGCC-TGCCGCCGCCGCC
- chr16-79599908-TGCCGCCGCCGCCGCC-TGCCGCCGCCGCCGCCGCC
- chr16-79599908-TGCCGCCGCCGCCGCC-TGCCGCCGCCGCCGCCGCCGCC
- chr16-79599908-TGCCGCCGCCGCCGCC-TGCCGCCGCCGCCGCCGCCGCCGCCGCC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005360.5(MAF):c.-21_-7del variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000214 in 1,403,736 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0000021 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
MAF
NM_005360.5 5_prime_UTR
NM_005360.5 5_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.29
Genes affected
MAF (HGNC:6776): (MAF bZIP transcription factor) The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
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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 |
---|---|---|---|---|---|---|---|
MAF | NM_005360.5 | c.-21_-7del | 5_prime_UTR_variant | 1/2 | ENST00000326043.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAF | ENST00000326043.5 | c.-21_-7del | 5_prime_UTR_variant | 1/2 | 1 | NM_005360.5 | A2 | ||
MAF | ENST00000393350.1 | c.-21_-7del | 5_prime_UTR_variant | 1/1 | A2 | ||||
MAF | ENST00000569649.1 | upstream_gene_variant | 5 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 150704Hom.: 0 Cov.: 0 FAILED QC
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GnomAD4 exome AF: 0.00000214 AC: 3AN: 1403736Hom.: 0 AF XY: 0.00000143 AC XY: 1AN XY: 699342
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GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 150704Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 73548
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ClinVar
Not reported inComputational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at