14-96398118-CAGAGGAAGAGGA-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_152327.5(AK7):c.159_170delGGAAGAGGAAGA(p.Glu53_Glu56del) variant causes a disruptive inframe deletion change. The variant allele was found at a frequency of 0.000531 in 1,614,100 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152327.5 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AK7 | ENST00000267584.9 | c.159_170delGGAAGAGGAAGA | p.Glu53_Glu56del | disruptive_inframe_deletion | Exon 2 of 18 | 1 | NM_152327.5 | ENSP00000267584.4 | ||
AK7 | ENST00000555570.1 | c.159_170delGGAAGAGGAAGA | p.Glu53_Glu56del | disruptive_inframe_deletion | Exon 2 of 2 | 2 | ENSP00000451068.1 | |||
AK7 | ENST00000556643.1 | n.170_181delGGAAGAGGAAGA | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000322 AC: 49AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000374 AC: 94AN: 251412Hom.: 0 AF XY: 0.000390 AC XY: 53AN XY: 135884
GnomAD4 exome AF: 0.000553 AC: 808AN: 1461828Hom.: 1 AF XY: 0.000532 AC XY: 387AN XY: 727224
GnomAD4 genome AF: 0.000322 AC: 49AN: 152272Hom.: 0 Cov.: 32 AF XY: 0.000363 AC XY: 27AN XY: 74442
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant, c.159_170del, results in the deletion of 4 amino acid(s) of the AK7 protein (p.Glu53_Glu56del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776901819, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with AK7-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at