NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro) AND not provided
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Jul 1, 2020
- 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:
- RCV000786103.7
Allele description [Variation Report for NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)]
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)
- Genes:
- LOC126807137:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 [Gene]
ANK2:ankyrin 2 [Gene - OMIM - HGNC] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)
- HGVS:
- NC_000004.12:g.113355801A>C
- NG_009006.2:g.542719A>C
- NM_001127493.3:c.4400-5022A>C
- NM_001148.6:c.7183A>CMANE SELECT
- NM_001354225.2:c.4439-5022A>C
- NM_001354228.2:c.4328-5022A>C
- NM_001354230.2:c.4406-5022A>C
- NM_001354231.2:c.4469-5022A>C
- NM_001354232.2:c.4463-5022A>C
- NM_001354235.2:c.4424-5022A>C
- NM_001354236.2:c.4325-5022A>C
- NM_001354237.2:c.4505-5022A>C
- NM_001354239.2:c.4397-5022A>C
- NM_001354240.2:c.4472-5022A>C
- NM_001354241.2:c.4472-5022A>C
- NM_001354242.2:c.4469-5022A>C
- NM_001354243.2:c.4364-5022A>C
- NM_001354244.2:c.4361-5022A>C
- NM_001354245.2:c.4265-5022A>C
- NM_001354246.2:c.4424-5022A>C
- NM_001354249.2:c.4241-5022A>C
- NM_001354252.2:c.4397-5022A>C
- NM_001354253.2:c.4202-5022A>C
- NM_001354254.2:c.4376-5022A>C
- NM_001354255.2:c.4364-5022A>C
- NM_001354256.2:c.4361-5022A>C
- NM_001354257.2:c.4166-5022A>C
- NM_001354258.2:c.4328-5022A>C
- NM_001354260.2:c.4142-5022A>C
- NM_001354261.2:c.4286-5022A>C
- NM_001354262.2:c.4265-5022A>C
- NM_001354264.2:c.4262-5022A>C
- NM_001354265.2:c.4424-5022A>C
- NM_001354266.2:c.4241-5022A>C
- NM_001354267.2:c.4241-5022A>C
- NM_001354268.2:c.4229-5022A>C
- NM_001354269.3:c.4214-5022A>C
- NM_001354270.2:c.4202-5022A>C
- NM_001354271.2:c.4142-5022A>C
- NM_001354272.2:c.4298-5022A>C
- NM_001354273.2:c.4127-5022A>C
- NM_001354274.2:c.4193-5022A>C
- NM_001354275.2:c.4265-5022A>C
- NM_001354276.2:c.4241-5022A>C
- NM_001354277.2:c.4043-5022A>C
- NM_001354278.2:c.1955-5022A>C
- NM_001354279.2:c.1991-5022A>C
- NM_001354280.2:c.1976-5022A>C
- NM_001354281.2:c.1955-5022A>C
- NM_001354282.2:c.1991-5022A>C
- NM_001386142.1:c.6949A>C
- NM_001386143.1:c.4364-5022A>C
- NM_001386144.1:c.4472-5022A>C
- NM_001386146.1:c.4208-5022A>C
- NM_001386147.1:c.4253-5022A>C
- NM_001386148.2:c.4412-5022A>C
- NM_001386149.1:c.4208-5022A>C
- NM_001386150.1:c.4208-5022A>C
- NM_001386151.1:c.4142-5022A>C
- NM_001386152.1:c.4484-5022A>C
- NM_001386153.1:c.4208-5022A>C
- NM_001386154.1:c.4193-5022A>C
- NM_001386156.1:c.4166-5022A>C
- NM_001386157.1:c.4043-5022A>C
- NM_001386158.1:c.3944-5022A>C
- NM_001386160.1:c.4271-5022A>C
- NM_001386161.1:c.4361-5022A>C
- NM_001386162.1:c.4241-5022A>C
- NM_001386166.1:c.3583A>C
- NM_001386167.1:c.827-5022A>C
- NM_001386174.1:c.7324A>C
- NM_001386175.1:c.7300A>C
- NM_001386186.2:c.4412-5022A>C
- NM_001386187.2:c.4292-5022A>C
- NM_020977.5:c.4427-5022A>C
- NP_001139.3:p.Thr2395Pro
- NP_001373071.1:p.Thr2317Pro
- NP_001373095.1:p.Thr1195Pro
- NP_001373103.1:p.Thr2442Pro
- NP_001373104.1:p.Thr2434Pro
- LRG_327t1:c.7183A>C
- LRG_327:g.542719A>C
- NC_000004.11:g.114276957A>C
- NM_001148.4:c.7183A>C
- NM_001148.5:c.7183A>C
This HGVS expression did not pass validation- Protein change:
- T1195P
- Links:
- dbSNP: rs201693280
- NCBI 1000 Genomes Browser:
- rs201693280
- Molecular consequence:
- NM_001127493.3:c.4400-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4439-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4328-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4406-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4469-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4463-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4424-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4325-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4505-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4397-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4472-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4472-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4469-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4364-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4361-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4265-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4424-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4241-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4397-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4202-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4376-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4364-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4361-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4166-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4328-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4142-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4286-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4265-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4262-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4424-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4241-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4241-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4229-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4214-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4202-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4142-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4298-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4127-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4193-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4265-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4241-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4043-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1955-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1991-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1976-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1955-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1991-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4364-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4472-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4208-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4253-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4412-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4208-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4208-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4142-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4484-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4208-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4193-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4166-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4043-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3944-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4271-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4361-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4241-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.827-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4412-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4292-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4427-5022A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.7183A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.6949A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.3583A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.7324A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.7300A>C - missense variant - [Sequence Ontology: SO:0001583]
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 |
|---|---|---|---|---|---|---|
| SCV000924747 | Stanford Center for Inherited Cardiovascular Disease, Stanford University | no assertion criteria provided | Uncertain significance (Mar 17, 2017) | germline | provider interpretation | |
| SCV001771942 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Uncertain significance (Jul 1, 2020) | germline | clinical testing | |
| SCV003818594 | Revvity Omics, Revvity | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Mar 11, 2019) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | not provided | 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, provider interpretation |
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 Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000924747.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | provider interpretation | 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 GeneDx, SCV001771942.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
Observed in patients with LQTS and SCD in the published literature (Brion et al., 2014; Campuzano et al., 2017); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 457049; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26220970, 28255936, 28988457, 24981977)
| # | 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 Revvity Omics, Revvity, SCV003818594.2
| # | 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 | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Sep 29, 2024