chr7-140694739-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_052853.4(ADCK2):c.1817C>T(p.Pro606Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,613,992 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052853.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADCK2 | NM_052853.4 | c.1817C>T | p.Pro606Leu | missense_variant | Exon 8 of 8 | ENST00000072869.9 | NP_443085.2 | |
ADCK2 | XM_011516675.4 | c.1721C>T | p.Pro574Leu | missense_variant | Exon 7 of 7 | XP_011514977.1 | ||
ADCK2 | XM_006716170.5 | c.1565C>T | p.Pro522Leu | missense_variant | Exon 7 of 7 | XP_006716233.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000676 AC: 17AN: 251318Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135844
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1461802Hom.: 0 Cov.: 30 AF XY: 0.0000248 AC XY: 18AN XY: 727198
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1817C>T (p.P606L) alteration is located in exon 8 (coding exon 8) of the ADCK2 gene. This alteration results from a C to T substitution at nucleotide position 1817, causing the proline (P) at amino acid position 606 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at