14-96398118-CAGAGGAAGAGGA-CAGAGGAAGAGGAAGAGGA
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_152327.5(AK7):c.165_170dupGGAAGA(p.Glu55_Glu56dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,613,986 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 0.000046 ( 0 hom., cov: 32)
Exomes 𝑓: 0.000027 ( 0 hom. )
Consequence
AK7
NM_152327.5 disruptive_inframe_insertion
NM_152327.5 disruptive_inframe_insertion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.366
Genes affected
AK7 (HGNC:20091): (adenylate kinase 7) This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]
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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_152327.5.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AK7 | ENST00000267584.9 | c.165_170dupGGAAGA | p.Glu55_Glu56dup | disruptive_inframe_insertion | Exon 2 of 18 | 1 | NM_152327.5 | ENSP00000267584.4 | ||
AK7 | ENST00000555570.1 | c.165_170dupGGAAGA | p.Glu55_Glu56dup | disruptive_inframe_insertion | Exon 2 of 2 | 2 | ENSP00000451068.1 | |||
AK7 | ENST00000556643.1 | n.176_181dupGGAAGA | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152154Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251412Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135884
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GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461832Hom.: 0 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 727226
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GnomAD4 genome AF: 0.0000460 AC: 7AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74314
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at