NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) AND not provided
- Germline classification:
- Benign/Likely benign (5 submissions)
- Last evaluated:
- Apr 1, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- 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:
- RCV000171739.19
Allele description [Variation Report for NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)]
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
- Gene:
- ANK2:ankyrin 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
- HGVS:
- NC_000004.12:g.113353363G>A
- NG_009006.2:g.540281G>A
- NM_001127493.3:c.4399+3114G>A
- NM_001148.6:c.4745G>AMANE SELECT
- NM_001354225.2:c.4438+3114G>A
- NM_001354228.2:c.4327+3114G>A
- NM_001354230.2:c.4405+3114G>A
- NM_001354231.2:c.4468+3114G>A
- NM_001354232.2:c.4462+3114G>A
- NM_001354235.2:c.4423+3114G>A
- NM_001354236.2:c.4324+3114G>A
- NM_001354237.2:c.4504+3114G>A
- NM_001354239.2:c.4396+3114G>A
- NM_001354240.2:c.4471+3114G>A
- NM_001354241.2:c.4471+3114G>A
- NM_001354242.2:c.4468+3114G>A
- NM_001354243.2:c.4363+3114G>A
- NM_001354244.2:c.4360+3114G>A
- NM_001354245.2:c.4264+3114G>A
- NM_001354246.2:c.4423+3114G>A
- NM_001354249.2:c.4240+3114G>A
- NM_001354252.2:c.4396+3114G>A
- NM_001354253.2:c.4201+3114G>A
- NM_001354254.2:c.4375+3114G>A
- NM_001354255.2:c.4363+3114G>A
- NM_001354256.2:c.4360+3114G>A
- NM_001354257.2:c.4165+3114G>A
- NM_001354258.2:c.4327+3114G>A
- NM_001354260.2:c.4141+3114G>A
- NM_001354261.2:c.4285+3114G>A
- NM_001354262.2:c.4264+3114G>A
- NM_001354264.2:c.4261+3114G>A
- NM_001354265.2:c.4423+3114G>A
- NM_001354266.2:c.4240+3114G>A
- NM_001354267.2:c.4240+3114G>A
- NM_001354268.2:c.4228+3114G>A
- NM_001354269.3:c.4213+3114G>A
- NM_001354270.2:c.4201+3114G>A
- NM_001354271.2:c.4141+3114G>A
- NM_001354272.2:c.4297+3114G>A
- NM_001354273.2:c.4126+3114G>A
- NM_001354274.2:c.4192+3114G>A
- NM_001354275.2:c.4264+3114G>A
- NM_001354276.2:c.4240+3114G>A
- NM_001354277.2:c.4042+3114G>A
- NM_001354278.2:c.1954+3114G>A
- NM_001354279.2:c.1990+3114G>A
- NM_001354280.2:c.1975+3114G>A
- NM_001354281.2:c.1954+3114G>A
- NM_001354282.2:c.1990+3114G>A
- NM_001386142.1:c.4511G>A
- NM_001386143.1:c.4363+3114G>A
- NM_001386144.1:c.4471+3114G>A
- NM_001386146.1:c.4207+3114G>A
- NM_001386147.1:c.4252+3114G>A
- NM_001386148.2:c.4411+3114G>A
- NM_001386149.1:c.4207+3114G>A
- NM_001386150.1:c.4207+3114G>A
- NM_001386151.1:c.4141+3114G>A
- NM_001386152.1:c.4483+3114G>A
- NM_001386153.1:c.4207+3114G>A
- NM_001386154.1:c.4192+3114G>A
- NM_001386156.1:c.4165+3114G>A
- NM_001386157.1:c.4042+3114G>A
- NM_001386158.1:c.3943+3114G>A
- NM_001386160.1:c.4270+3114G>A
- NM_001386161.1:c.4360+3114G>A
- NM_001386162.1:c.4240+3114G>A
- NM_001386166.1:c.1145G>A
- NM_001386167.1:c.826+3114G>A
- NM_001386174.1:c.4886G>A
- NM_001386175.1:c.4862G>A
- NM_001386186.2:c.4411+3114G>A
- NM_001386187.2:c.4291+3114G>A
- NM_020977.5:c.4426+3114G>A
- NP_001139.3:p.Arg1582Gln
- NP_001373071.1:p.Arg1504Gln
- NP_001373095.1:p.Arg382Gln
- NP_001373103.1:p.Arg1629Gln
- NP_001373104.1:p.Arg1621Gln
- LRG_327t1:c.4745G>A
- LRG_327:g.540281G>A
- NC_000004.11:g.114274519G>A
- NM_001148.4:c.4745G>A
- NM_001148.5:c.4745G>A
This HGVS expression did not pass validation- Protein change:
- R1504Q
- Links:
- dbSNP: rs138842207
- NCBI 1000 Genomes Browser:
- rs138842207
- Molecular consequence:
- NM_001127493.3:c.4399+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4438+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4327+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4405+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4468+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4462+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4423+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4324+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4504+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4396+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4471+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4471+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4468+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4363+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4360+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4264+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4423+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4240+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4396+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4201+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4375+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4363+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4360+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4165+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4327+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4141+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4285+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4264+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4261+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4423+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4240+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4240+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4228+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4213+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4201+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4141+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4297+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4126+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4192+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4264+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4240+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4042+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1954+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1990+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1975+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1954+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1990+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4363+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4471+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4207+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4252+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4411+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4207+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4207+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4141+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4483+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4207+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4192+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4165+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4042+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3943+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4270+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4360+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4240+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.826+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4411+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4291+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4426+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.4745G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.4511G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.1145G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.4886G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.4862G>A - missense variant - [Sequence Ontology: SO:0001583]
- Observations:
- 2
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000050745 | Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq | criteria provided, single submitter (Ng et al. (Circ Cardiovasc Genet. 2013)) | Likely benign (Jun 24, 2013) | unknown | research | |
| SCV000729790 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Likely benign (Oct 13, 2020) | germline | clinical testing | |
| SCV001955953 | Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus
| no assertion criteria provided | Likely benign | germline | clinical testing | |
| SCV003799657 | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021) | Likely benign (Apr 15, 2022) | germline | clinical testing | |
| SCV004148731 | CeGaT Center for Human Genetics Tuebingen | criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) | Benign (Apr 1, 2024) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | 2 | not provided | not provided | not provided | not provided | clinical testing |
| not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
| not provided | unknown | unknown | 3 | not provided | not provided | not provided | not provided | research |
Citations
PubMed
Interpreting secondary cardiac disease variants in an exome cohort.
Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..
Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.
PubMed [citation]
- PMID:
- 23861362
- PMCID:
- PMC3887521
Details of each submission
From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000050745.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 3 | not provided | not provided | research | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | unknown | not provided | not provided | not provided | 3 | not provided | not provided | not provided | |
From GeneDx, SCV000729790.3
| # | 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 Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001955953.1
| # | 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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003799657.2
| # | 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 | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From CeGaT Center for Human Genetics Tuebingen, SCV004148731.9
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 2 | not provided | not provided | clinical testing | not provided |
Description
ANK2: BP4, BS1, BS2
| # | 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 | 2 | not provided | not provided | not provided | |
Last Updated: Oct 8, 2024