NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 6, 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:
- RCV001050180.4
Allele description [Variation Report for NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys)]
NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys)
- Genes:
- LOC126807136:MED14-independent group 3 enhancer GRCh37_chr4:114274931-114276130 [Gene]
ANK2:ankyrin 2 [Gene - OMIM - HGNC] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys)
- HGVS:
- NC_000004.12:g.113354355C>T
- NG_009006.2:g.541273C>T
- NM_001127493.3:c.4399+4106C>T
- NM_001148.6:c.5737C>TMANE SELECT
- NM_001354225.2:c.4438+4106C>T
- NM_001354228.2:c.4327+4106C>T
- NM_001354230.2:c.4405+4106C>T
- NM_001354231.2:c.4468+4106C>T
- NM_001354232.2:c.4462+4106C>T
- NM_001354235.2:c.4423+4106C>T
- NM_001354236.2:c.4324+4106C>T
- NM_001354237.2:c.4504+4106C>T
- NM_001354239.2:c.4396+4106C>T
- NM_001354240.2:c.4471+4106C>T
- NM_001354241.2:c.4471+4106C>T
- NM_001354242.2:c.4468+4106C>T
- NM_001354243.2:c.4363+4106C>T
- NM_001354244.2:c.4360+4106C>T
- NM_001354245.2:c.4264+4106C>T
- NM_001354246.2:c.4423+4106C>T
- NM_001354249.2:c.4240+4106C>T
- NM_001354252.2:c.4396+4106C>T
- NM_001354253.2:c.4201+4106C>T
- NM_001354254.2:c.4375+4106C>T
- NM_001354255.2:c.4363+4106C>T
- NM_001354256.2:c.4360+4106C>T
- NM_001354257.2:c.4165+4106C>T
- NM_001354258.2:c.4327+4106C>T
- NM_001354260.2:c.4141+4106C>T
- NM_001354261.2:c.4285+4106C>T
- NM_001354262.2:c.4264+4106C>T
- NM_001354264.2:c.4261+4106C>T
- NM_001354265.2:c.4423+4106C>T
- NM_001354266.2:c.4240+4106C>T
- NM_001354267.2:c.4240+4106C>T
- NM_001354268.2:c.4228+4106C>T
- NM_001354269.3:c.4213+4106C>T
- NM_001354270.2:c.4201+4106C>T
- NM_001354271.2:c.4141+4106C>T
- NM_001354272.2:c.4297+4106C>T
- NM_001354273.2:c.4126+4106C>T
- NM_001354274.2:c.4192+4106C>T
- NM_001354275.2:c.4264+4106C>T
- NM_001354276.2:c.4240+4106C>T
- NM_001354277.2:c.4042+4106C>T
- NM_001354278.2:c.1954+4106C>T
- NM_001354279.2:c.1990+4106C>T
- NM_001354280.2:c.1975+4106C>T
- NM_001354281.2:c.1954+4106C>T
- NM_001354282.2:c.1990+4106C>T
- NM_001386142.1:c.5503C>T
- NM_001386143.1:c.4363+4106C>T
- NM_001386144.1:c.4471+4106C>T
- NM_001386146.1:c.4207+4106C>T
- NM_001386147.1:c.4252+4106C>T
- NM_001386148.2:c.4411+4106C>T
- NM_001386149.1:c.4207+4106C>T
- NM_001386150.1:c.4207+4106C>T
- NM_001386151.1:c.4141+4106C>T
- NM_001386152.1:c.4483+4106C>T
- NM_001386153.1:c.4207+4106C>T
- NM_001386154.1:c.4192+4106C>T
- NM_001386156.1:c.4165+4106C>T
- NM_001386157.1:c.4042+4106C>T
- NM_001386158.1:c.3943+4106C>T
- NM_001386160.1:c.4270+4106C>T
- NM_001386161.1:c.4360+4106C>T
- NM_001386162.1:c.4240+4106C>T
- NM_001386166.1:c.2137C>T
- NM_001386167.1:c.826+4106C>T
- NM_001386174.1:c.5878C>T
- NM_001386175.1:c.5854C>T
- NM_001386186.2:c.4411+4106C>T
- NM_001386187.2:c.4291+4106C>T
- NM_020977.5:c.4426+4106C>T
- NP_001139.3:p.Arg1913Cys
- NP_001373071.1:p.Arg1835Cys
- NP_001373095.1:p.Arg713Cys
- NP_001373103.1:p.Arg1960Cys
- NP_001373104.1:p.Arg1952Cys
- LRG_327t1:c.5737C>T
- LRG_327:g.541273C>T
- NC_000004.11:g.114275511C>T
- NM_001148.4:c.5737C>T
This HGVS expression did not pass validation- Protein change:
- R1835C
- Links:
- dbSNP: rs147547363
- NCBI 1000 Genomes Browser:
- rs147547363
- Molecular consequence:
- NM_001127493.3:c.4399+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4438+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4327+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4405+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4468+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4462+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4423+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4324+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4504+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4396+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4471+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4471+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4468+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4363+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4360+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4264+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4423+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4240+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4396+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4201+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4375+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4363+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4360+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4165+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4327+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4141+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4285+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4264+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4261+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4423+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4240+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4240+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4228+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4213+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4201+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4141+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4297+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4126+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4192+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4264+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4240+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4042+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1954+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1990+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1975+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1954+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1990+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4363+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4471+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4207+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4252+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4411+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4207+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4207+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4141+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4483+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4207+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4192+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4165+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4042+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3943+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4270+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4360+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4240+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.826+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4411+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4291+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4426+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.5737C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.5503C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.2137C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.5878C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.5854C>T - 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 |
|---|---|---|---|---|---|---|
| SCV001214276 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Nov 6, 2021) | 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
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.
PubMed [citation]
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV001214276.4
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
ClinVar contains an entry for this variant (Variation ID: 846786). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is present in population databases (rs147547363, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1913 of the ANK2 protein (p.Arg1913Cys).
| # | 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: Oct 8, 2024