5-179111471-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_014244.5(ADAMTS2):c.*2396C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.308 in 152,164 control chromosomes in the GnomAD database, including 7,297 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_014244.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADAMTS2 | NM_014244.5 | c.*2396C>T | 3_prime_UTR_variant | Exon 22 of 22 | ENST00000251582.12 | NP_055059.2 | ||
ADAMTS2 | XM_047417895.1 | c.*2396C>T | 3_prime_UTR_variant | Exon 21 of 21 | XP_047273851.1 | |||
ADAMTS2 | XM_047417896.1 | c.*2396C>T | 3_prime_UTR_variant | Exon 20 of 20 | XP_047273852.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.308 AC: 46881AN: 152028Hom.: 7293 Cov.: 33
GnomAD4 exome AF: 0.333 AC: 6AN: 18Hom.: 1 Cov.: 0 AF XY: 0.333 AC XY: 6AN XY: 18
GnomAD4 genome AF: 0.308 AC: 46904AN: 152146Hom.: 7296 Cov.: 33 AF XY: 0.311 AC XY: 23142AN XY: 74372
ClinVar
Submissions by phenotype
Ehlers-Danlos syndrome, dermatosparaxis type Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at