Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No CSPEC related information was provided by the message!
  • See Evidence submitted by expert panel for details.

Variant: NM_001482.3(GATM):c.*734_*735insCA

CA10636071

316203 (ClinVar)

Gene: GATM
Condition: AGAT deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 51479e9a-22de-48f1-92e4-988df267ba78
Approved on: 2022-06-06
Published on: 2022-10-05

HGVS expressions

NM_001482.3:c.*734_*735insCA
NM_001482.3(GATM):c.*734_*735insCA
NC_000015.10:g.45361375_45361376insGT
CM000677.2:g.45361375_45361376insGT
NC_000015.9:g.45653573_45653574insGT
CM000677.1:g.45653573_45653574insGT
NC_000015.8:g.43440865_43440866insGT
NG_011674.1:g.22408_22409insCA
NG_011674.2:g.45943_45944insCA
ENST00000396659.8:c.*734_*735insCA
ENST00000675158.1:c.*906_*907insCA
ENST00000675323.1:c.*2508_*2509insCA
ENST00000676090.1:c.*2737_*2738insCA
ENST00000396659.7:c.*734_*735insCA
ENST00000558362.5:n.3662_3663insCA
NM_001482.2:c.*734_*735insCA
NM_001321015.1:c.*734_*735insCA
NM_001321015.2:c.*734_*735insCA
More

Benign

Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Cerebral Creatine Deficiency Syndromes VCEP
The NM_001482.3:c.*734_*735insCA variant inserts two nucleotides in the 3'UTR of GATM. Because the variant is located in the 3'UTR, it is not expected to alter the amino acid sequence. The highest population minor allele frequency in gnomAD v2.1.1, in a population with >2000 alleles, is 0.8397 (7277/8666 alleles) in the African population, which is higher than the ClinGen CCDS VCEP’s threshold for BA1 (>0.0005), and therefore meets this criterion (BA1). There is a ClinVar entry for this variant (Variation ID: 316203). In summary, this variant meets the criteria to be classified as benign for AGAT deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (Specifications Version 1.1.0): BA1. (Classification approved by the ClinGen CCDS VCEP on June 6, 2022).
Met criteria codes
BA1
The highest population minor allele frequency in gnomAD v2.1.1, in a population with >2000 alleles, is 0.8397 (7277/8666 alleles) in the African population, which is higher than the ClinGen CCDS VCEP’s threshold for BA1 (>0.0005), and therefore meets this criterion (BA1).
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.