NM_001148.6(ANK2):c.10888+20C>T AND Cardiac arrhythmia, ankyrin-B-related
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Dec 5, 2021
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000603116.2
Allele description [Variation Report for NM_001148.6(ANK2):c.10888+20C>T]
NM_001148.6(ANK2):c.10888+20C>T
- Gene:
- ANK2:ankyrin 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.10888+20C>T
- HGVS:
- NC_000004.12:g.113363489C>T
- NG_009006.2:g.550407C>T
- NM_001127493.3:c.4606+20C>T
- NM_001148.6:c.10888+20C>TMANE SELECT
- NM_001354225.2:c.4645+20C>T
- NM_001354228.2:c.4534+20C>T
- NM_001354230.2:c.4612+20C>T
- NM_001354231.2:c.4675+20C>T
- NM_001354232.2:c.4669+20C>T
- NM_001354235.2:c.4630+20C>T
- NM_001354236.2:c.4531+20C>T
- NM_001354237.2:c.4711+20C>T
- NM_001354239.2:c.4603+20C>T
- NM_001354240.2:c.4678+20C>T
- NM_001354241.2:c.4678+20C>T
- NM_001354242.2:c.4675+20C>T
- NM_001354243.2:c.4570+20C>T
- NM_001354244.2:c.4567+20C>T
- NM_001354245.2:c.4471+20C>T
- NM_001354246.2:c.4630+20C>T
- NM_001354249.2:c.4447+20C>T
- NM_001354252.2:c.4603+20C>T
- NM_001354253.2:c.4408+20C>T
- NM_001354254.2:c.4582+20C>T
- NM_001354255.2:c.4570+20C>T
- NM_001354256.2:c.4567+20C>T
- NM_001354257.2:c.4372+20C>T
- NM_001354258.2:c.4534+20C>T
- NM_001354260.2:c.4348+20C>T
- NM_001354261.2:c.4492+20C>T
- NM_001354262.2:c.4471+20C>T
- NM_001354264.2:c.4468+20C>T
- NM_001354265.2:c.4630+20C>T
- NM_001354266.2:c.4447+20C>T
- NM_001354267.2:c.4447+20C>T
- NM_001354268.2:c.4435+20C>T
- NM_001354269.3:c.4420+20C>T
- NM_001354270.2:c.4408+20C>T
- NM_001354271.2:c.4348+20C>T
- NM_001354272.2:c.4504+20C>T
- NM_001354273.2:c.4333+20C>T
- NM_001354274.2:c.4399+20C>T
- NM_001354275.2:c.4471+20C>T
- NM_001354276.2:c.4447+20C>T
- NM_001354277.2:c.4249+20C>T
- NM_001354278.2:c.2161+20C>T
- NM_001354279.2:c.2197+20C>T
- NM_001354280.2:c.2182+20C>T
- NM_001354281.2:c.2161+20C>T
- NM_001354282.2:c.2197+20C>T
- NM_001386142.1:c.10654+20C>T
- NM_001386143.1:c.4570+20C>T
- NM_001386144.1:c.4678+20C>T
- NM_001386146.1:c.4414+20C>T
- NM_001386147.1:c.4459+20C>T
- NM_001386148.2:c.4618+20C>T
- NM_001386149.1:c.4414+20C>T
- NM_001386150.1:c.4414+20C>T
- NM_001386151.1:c.4348+20C>T
- NM_001386152.1:c.4690+20C>T
- NM_001386153.1:c.4414+20C>T
- NM_001386154.1:c.4399+20C>T
- NM_001386156.1:c.4372+20C>T
- NM_001386157.1:c.4249+20C>T
- NM_001386158.1:c.4150+20C>T
- NM_001386160.1:c.4477+20C>T
- NM_001386161.1:c.4567+20C>T
- NM_001386162.1:c.4447+20C>T
- NM_001386166.1:c.7288+20C>T
- NM_001386167.1:c.1033+20C>T
- NM_001386174.1:c.11029+20C>T
- NM_001386175.1:c.11005+20C>T
- NM_001386186.2:c.4618+20C>T
- NM_001386187.2:c.4498+20C>T
- NM_020977.5:c.4633+20C>T
- LRG_327t1:c.10888+20C>T
- LRG_327t2:c.4606+20C>T
- LRG_327:g.550407C>T
- NC_000004.11:g.114284645C>T
- NM_001127493.1:c.4606+20C>T
- NM_001148.4:c.10888+20C>T
This HGVS expression did not pass validation- Links:
- dbSNP: rs35728190
- NCBI 1000 Genomes Browser:
- rs35728190
- Molecular consequence:
- NM_001127493.3:c.4606+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.10888+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4645+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4534+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4612+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4675+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4669+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4630+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4531+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4711+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4603+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4678+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4678+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4675+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4570+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4567+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4471+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4630+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4447+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4603+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4408+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4582+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4570+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4567+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4372+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4534+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4348+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4492+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4471+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4468+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4630+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4447+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4447+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4435+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4420+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4408+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4348+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4504+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4333+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4399+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4471+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4447+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4249+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.2161+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.2197+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.2182+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.2161+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.2197+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386142.1:c.10654+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4570+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4678+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4414+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4459+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4618+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4414+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4414+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4348+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4690+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4414+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4399+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4372+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4249+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.4150+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4477+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4567+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4447+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386166.1:c.7288+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.1033+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386174.1:c.11029+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386175.1:c.11005+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4618+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4498+20C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4633+20C>T - intron variant - [Sequence Ontology: SO:0001627]
Condition(s)
-
ACOT12 [Camelus ferus]
ACOT12 [Camelus ferus]Gene ID:102509429Gene
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000734308 | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus | no assertion criteria provided | Benign | germline | clinical testing | |
SCV002525091 | Genome-Nilou Lab | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Dec 5, 2021) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | no | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
PubMed [citation]
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734308.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Genome-Nilou Lab, SCV002525091.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | no | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024