NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 10, 2023
- 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:
- RCV001049919.3
Allele description [Variation Report for NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys)]
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys)
- 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.7136C>A (p.Thr2379Lys)
- HGVS:
- NC_000004.12:g.113355754C>A
- NG_009006.2:g.542672C>A
- NM_001127493.3:c.4400-5069C>A
- NM_001148.6:c.7136C>AMANE SELECT
- NM_001354225.2:c.4439-5069C>A
- NM_001354228.2:c.4328-5069C>A
- NM_001354230.2:c.4406-5069C>A
- NM_001354231.2:c.4469-5069C>A
- NM_001354232.2:c.4463-5069C>A
- NM_001354235.2:c.4424-5069C>A
- NM_001354236.2:c.4325-5069C>A
- NM_001354237.2:c.4505-5069C>A
- NM_001354239.2:c.4397-5069C>A
- NM_001354240.2:c.4472-5069C>A
- NM_001354241.2:c.4472-5069C>A
- NM_001354242.2:c.4469-5069C>A
- NM_001354243.2:c.4364-5069C>A
- NM_001354244.2:c.4361-5069C>A
- NM_001354245.2:c.4265-5069C>A
- NM_001354246.2:c.4424-5069C>A
- NM_001354249.2:c.4241-5069C>A
- NM_001354252.2:c.4397-5069C>A
- NM_001354253.2:c.4202-5069C>A
- NM_001354254.2:c.4376-5069C>A
- NM_001354255.2:c.4364-5069C>A
- NM_001354256.2:c.4361-5069C>A
- NM_001354257.2:c.4166-5069C>A
- NM_001354258.2:c.4328-5069C>A
- NM_001354260.2:c.4142-5069C>A
- NM_001354261.2:c.4286-5069C>A
- NM_001354262.2:c.4265-5069C>A
- NM_001354264.2:c.4262-5069C>A
- NM_001354265.2:c.4424-5069C>A
- NM_001354266.2:c.4241-5069C>A
- NM_001354267.2:c.4241-5069C>A
- NM_001354268.2:c.4229-5069C>A
- NM_001354269.3:c.4214-5069C>A
- NM_001354270.2:c.4202-5069C>A
- NM_001354271.2:c.4142-5069C>A
- NM_001354272.2:c.4298-5069C>A
- NM_001354273.2:c.4127-5069C>A
- NM_001354274.2:c.4193-5069C>A
- NM_001354275.2:c.4265-5069C>A
- NM_001354276.2:c.4241-5069C>A
- NM_001354277.2:c.4043-5069C>A
- NM_001354278.2:c.1955-5069C>A
- NM_001354279.2:c.1991-5069C>A
- NM_001354280.2:c.1976-5069C>A
- NM_001354281.2:c.1955-5069C>A
- NM_001354282.2:c.1991-5069C>A
- NM_001386142.1:c.6902C>A
- NM_001386143.1:c.4364-5069C>A
- NM_001386144.1:c.4472-5069C>A
- NM_001386146.1:c.4208-5069C>A
- NM_001386147.1:c.4253-5069C>A
- NM_001386148.2:c.4412-5069C>A
- NM_001386149.1:c.4208-5069C>A
- NM_001386150.1:c.4208-5069C>A
- NM_001386151.1:c.4142-5069C>A
- NM_001386152.1:c.4484-5069C>A
- NM_001386153.1:c.4208-5069C>A
- NM_001386154.1:c.4193-5069C>A
- NM_001386156.1:c.4166-5069C>A
- NM_001386157.1:c.4043-5069C>A
- NM_001386158.1:c.3944-5069C>A
- NM_001386160.1:c.4271-5069C>A
- NM_001386161.1:c.4361-5069C>A
- NM_001386162.1:c.4241-5069C>A
- NM_001386166.1:c.3536C>A
- NM_001386167.1:c.827-5069C>A
- NM_001386174.1:c.7277C>A
- NM_001386175.1:c.7253C>A
- NM_001386186.2:c.4412-5069C>A
- NM_001386187.2:c.4292-5069C>A
- NM_020977.5:c.4427-5069C>A
- NP_001139.3:p.Thr2379Lys
- NP_001373071.1:p.Thr2301Lys
- NP_001373095.1:p.Thr1179Lys
- NP_001373103.1:p.Thr2426Lys
- NP_001373104.1:p.Thr2418Lys
- LRG_327t1:c.7136C>A
- LRG_327:g.542672C>A
- NC_000004.11:g.114276910C>A
- NM_001148.4:c.7136C>A
This HGVS expression did not pass validation- Protein change:
- T1179K
- Links:
- dbSNP: rs753351853
- NCBI 1000 Genomes Browser:
- rs753351853
- Molecular consequence:
- NM_001127493.3:c.4400-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4439-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4328-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4406-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4469-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4463-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4424-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4325-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4505-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4397-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4472-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4472-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4469-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4364-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4361-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4265-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4424-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4241-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4397-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4202-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4376-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4364-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4361-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4166-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4328-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4142-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4286-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4265-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4262-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4424-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4241-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4241-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4229-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4214-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4202-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4142-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4298-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4127-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4193-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4265-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4241-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4043-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1955-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1991-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1976-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1955-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1991-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4364-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4472-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4208-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4253-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4412-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4208-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4208-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4142-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4484-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4208-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4193-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4166-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4043-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3944-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4271-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4361-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4241-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.827-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4412-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4292-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4427-5069C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.7136C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.6902C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.3536C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.7277C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.7253C>A - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001213997 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Sep 10, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I.
Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.
- PMID:
- 30847666
- PMCID:
- PMC6533346
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From Invitae, SCV001213997.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (2) |
Description
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 560632). This missense change has been observed in individual(s) with clinical features of ANK2-related conditions (PMID: 30847666). This variant is present in population databases (rs753351853, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 2379 of the ANK2 protein (p.Thr2379Lys).
# | 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: May 12, 2024