7-140690782-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_052853.4(ADCK2):c.1709C>G(p.Ser570Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000547 in 1,461,804 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
Genome browser will be placed here
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.1709C>G | p.Ser570Cys | missense_variant | Exon 7 of 8 | ENST00000072869.9 | NP_443085.2 | |
ADCK2 | XM_011516675.4 | c.1613C>G | p.Ser538Cys | missense_variant | Exon 6 of 7 | XP_011514977.1 | ||
ADCK2 | XM_006716170.5 | c.1457C>G | p.Ser486Cys | missense_variant | Exon 6 of 7 | XP_006716233.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251426Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135890
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461804Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727202
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1709C>G (p.S570C) alteration is located in exon 7 (coding exon 7) of the ADCK2 gene. This alteration results from a C to G substitution at nucleotide position 1709, causing the serine (S) at amino acid position 570 to be replaced by a cysteine (C). 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