chr16-79599341-CGTGGTG-C
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Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_005360.5(MAF):c.556_561del(p.His186_His187del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000405 in 987,328 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 0.0000069 ( 0 hom., cov: 30)
Exomes 𝑓: 0.0000036 ( 0 hom. )
Consequence
MAF
NM_005360.5 inframe_deletion
NM_005360.5 inframe_deletion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.52
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 4 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
PM4
Nonframeshift variant in NON repetitive region in NM_005360.5.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| MAF | NM_005360.5 | c.556_561del | p.His186_His187del | inframe_deletion | 1/2 | ENST00000326043.5 | NP_005351.2 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| MAF | ENST00000326043.5 | c.556_561del | p.His186_His187del | inframe_deletion | 1/2 | 1 | NM_005360.5 | ENSP00000327048 | A2 | |
| MAF | ENST00000393350.1 | c.556_561del | p.His186_His187del | inframe_deletion | 1/1 | ENSP00000377019 | A2 | |||
| MAF | ENST00000569649.1 | c.556_561del | p.His186_His187del | inframe_deletion | 1/2 | 5 | ENSP00000455097 | P4 |
Frequencies
GnomAD3 genomes 0.00000687 AC: 1AN: 145492Hom.: 0 Cov.: 30
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GnomAD4 exome AF: 0.00000356 AC: 3AN: 841836Hom.: 0 AF XY: 0.00000513 AC XY: 2AN XY: 390066
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GnomAD4 genome 0.00000687 AC: 1AN: 145492Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 70676
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at