NM_001148.6(ANK2):c.7249G>C (p.Asp2417His) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 15, 2022
- 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:
- RCV002524032.2
Allele description [Variation Report for NM_001148.6(ANK2):c.7249G>C (p.Asp2417His)]
NM_001148.6(ANK2):c.7249G>C (p.Asp2417His)
- 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.7249G>C (p.Asp2417His)
- HGVS:
- NC_000004.12:g.113355867G>C
- NG_009006.2:g.542785G>C
- NM_001127493.3:c.4400-4956G>C
- NM_001148.6:c.7249G>CMANE SELECT
- NM_001354225.2:c.4439-4956G>C
- NM_001354228.2:c.4328-4956G>C
- NM_001354230.2:c.4406-4956G>C
- NM_001354231.2:c.4469-4956G>C
- NM_001354232.2:c.4463-4956G>C
- NM_001354235.2:c.4424-4956G>C
- NM_001354236.2:c.4325-4956G>C
- NM_001354237.2:c.4505-4956G>C
- NM_001354239.2:c.4397-4956G>C
- NM_001354240.2:c.4472-4956G>C
- NM_001354241.2:c.4472-4956G>C
- NM_001354242.2:c.4469-4956G>C
- NM_001354243.2:c.4364-4956G>C
- NM_001354244.2:c.4361-4956G>C
- NM_001354245.2:c.4265-4956G>C
- NM_001354246.2:c.4424-4956G>C
- NM_001354249.2:c.4241-4956G>C
- NM_001354252.2:c.4397-4956G>C
- NM_001354253.2:c.4202-4956G>C
- NM_001354254.2:c.4376-4956G>C
- NM_001354255.2:c.4364-4956G>C
- NM_001354256.2:c.4361-4956G>C
- NM_001354257.2:c.4166-4956G>C
- NM_001354258.2:c.4328-4956G>C
- NM_001354260.2:c.4142-4956G>C
- NM_001354261.2:c.4286-4956G>C
- NM_001354262.2:c.4265-4956G>C
- NM_001354264.2:c.4262-4956G>C
- NM_001354265.2:c.4424-4956G>C
- NM_001354266.2:c.4241-4956G>C
- NM_001354267.2:c.4241-4956G>C
- NM_001354268.2:c.4229-4956G>C
- NM_001354269.3:c.4214-4956G>C
- NM_001354270.2:c.4202-4956G>C
- NM_001354271.2:c.4142-4956G>C
- NM_001354272.2:c.4298-4956G>C
- NM_001354273.2:c.4127-4956G>C
- NM_001354274.2:c.4193-4956G>C
- NM_001354275.2:c.4265-4956G>C
- NM_001354276.2:c.4241-4956G>C
- NM_001354277.2:c.4043-4956G>C
- NM_001354278.2:c.1955-4956G>C
- NM_001354279.2:c.1991-4956G>C
- NM_001354280.2:c.1976-4956G>C
- NM_001354281.2:c.1955-4956G>C
- NM_001354282.2:c.1991-4956G>C
- NM_001386142.1:c.7015G>C
- NM_001386143.1:c.4364-4956G>C
- NM_001386144.1:c.4472-4956G>C
- NM_001386146.1:c.4208-4956G>C
- NM_001386147.1:c.4253-4956G>C
- NM_001386148.2:c.4412-4956G>C
- NM_001386149.1:c.4208-4956G>C
- NM_001386150.1:c.4208-4956G>C
- NM_001386151.1:c.4142-4956G>C
- NM_001386152.1:c.4484-4956G>C
- NM_001386153.1:c.4208-4956G>C
- NM_001386154.1:c.4193-4956G>C
- NM_001386156.1:c.4166-4956G>C
- NM_001386157.1:c.4043-4956G>C
- NM_001386158.1:c.3944-4956G>C
- NM_001386160.1:c.4271-4956G>C
- NM_001386161.1:c.4361-4956G>C
- NM_001386162.1:c.4241-4956G>C
- NM_001386166.1:c.3649G>C
- NM_001386167.1:c.827-4956G>C
- NM_001386174.1:c.7390G>C
- NM_001386175.1:c.7366G>C
- NM_001386186.2:c.4412-4956G>C
- NM_001386187.2:c.4292-4956G>C
- NM_020977.5:c.4427-4956G>C
- NP_001139.3:p.Asp2417His
- NP_001373071.1:p.Asp2339His
- NP_001373095.1:p.Asp1217His
- NP_001373103.1:p.Asp2464His
- NP_001373104.1:p.Asp2456His
- LRG_327t1:c.7249G>C
- LRG_327:g.542785G>C
- NC_000004.11:g.114277023G>C
- NM_001148.4:c.7249G>C
This HGVS expression did not pass validation- Protein change:
- D1217H
- Links:
- dbSNP: rs372545180
- NCBI 1000 Genomes Browser:
- rs372545180
- Molecular consequence:
- NM_001127493.3:c.4400-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4439-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4328-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4406-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4469-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4463-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4424-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4325-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4505-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4397-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4472-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4472-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4469-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4364-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4361-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4265-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4424-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4241-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4397-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4202-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4376-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4364-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4361-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4166-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4328-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4142-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4286-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4265-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4262-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4424-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4241-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4241-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4229-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4214-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4202-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4142-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4298-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4127-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4193-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4265-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4241-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4043-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1955-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1991-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1976-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1955-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1991-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4364-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4472-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4208-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4253-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4412-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4208-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4208-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4142-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4484-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4208-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4193-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4166-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4043-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3944-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4271-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4361-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4241-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.827-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4412-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4292-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4427-4956G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.7249G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.7015G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.3649G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.7390G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.7366G>C - 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 |
---|---|---|---|---|---|---|
SCV003482019 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Apr 15, 2022) | 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):240-242.
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From Invitae, SCV003482019.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
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 sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 2417 of the ANK2 protein (p.Asp2417His). This variant is present in population databases (rs372545180, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 429643). 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.
# | 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 1, 2024