NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 7, 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:
- RCV000230793.5
Allele description [Variation Report for NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe)]
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe)
- 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.7105G>T (p.Val2369Phe)
- HGVS:
- NC_000004.12:g.113355723G>T
- NG_009006.2:g.542641G>T
- NM_001127493.3:c.4400-5100G>T
- NM_001148.6:c.7105G>TMANE SELECT
- NM_001354225.2:c.4439-5100G>T
- NM_001354228.2:c.4328-5100G>T
- NM_001354230.2:c.4406-5100G>T
- NM_001354231.2:c.4469-5100G>T
- NM_001354232.2:c.4463-5100G>T
- NM_001354235.2:c.4424-5100G>T
- NM_001354236.2:c.4325-5100G>T
- NM_001354237.2:c.4505-5100G>T
- NM_001354239.2:c.4397-5100G>T
- NM_001354240.2:c.4472-5100G>T
- NM_001354241.2:c.4472-5100G>T
- NM_001354242.2:c.4469-5100G>T
- NM_001354243.2:c.4364-5100G>T
- NM_001354244.2:c.4361-5100G>T
- NM_001354245.2:c.4265-5100G>T
- NM_001354246.2:c.4424-5100G>T
- NM_001354249.2:c.4241-5100G>T
- NM_001354252.2:c.4397-5100G>T
- NM_001354253.2:c.4202-5100G>T
- NM_001354254.2:c.4376-5100G>T
- NM_001354255.2:c.4364-5100G>T
- NM_001354256.2:c.4361-5100G>T
- NM_001354257.2:c.4166-5100G>T
- NM_001354258.2:c.4328-5100G>T
- NM_001354260.2:c.4142-5100G>T
- NM_001354261.2:c.4286-5100G>T
- NM_001354262.2:c.4265-5100G>T
- NM_001354264.2:c.4262-5100G>T
- NM_001354265.2:c.4424-5100G>T
- NM_001354266.2:c.4241-5100G>T
- NM_001354267.2:c.4241-5100G>T
- NM_001354268.2:c.4229-5100G>T
- NM_001354269.3:c.4214-5100G>T
- NM_001354270.2:c.4202-5100G>T
- NM_001354271.2:c.4142-5100G>T
- NM_001354272.2:c.4298-5100G>T
- NM_001354273.2:c.4127-5100G>T
- NM_001354274.2:c.4193-5100G>T
- NM_001354275.2:c.4265-5100G>T
- NM_001354276.2:c.4241-5100G>T
- NM_001354277.2:c.4043-5100G>T
- NM_001354278.2:c.1955-5100G>T
- NM_001354279.2:c.1991-5100G>T
- NM_001354280.2:c.1976-5100G>T
- NM_001354281.2:c.1955-5100G>T
- NM_001354282.2:c.1991-5100G>T
- NM_001386142.1:c.6871G>T
- NM_001386143.1:c.4364-5100G>T
- NM_001386144.1:c.4472-5100G>T
- NM_001386146.1:c.4208-5100G>T
- NM_001386147.1:c.4253-5100G>T
- NM_001386148.2:c.4412-5100G>T
- NM_001386149.1:c.4208-5100G>T
- NM_001386150.1:c.4208-5100G>T
- NM_001386151.1:c.4142-5100G>T
- NM_001386152.1:c.4484-5100G>T
- NM_001386153.1:c.4208-5100G>T
- NM_001386154.1:c.4193-5100G>T
- NM_001386156.1:c.4166-5100G>T
- NM_001386157.1:c.4043-5100G>T
- NM_001386158.1:c.3944-5100G>T
- NM_001386160.1:c.4271-5100G>T
- NM_001386161.1:c.4361-5100G>T
- NM_001386162.1:c.4241-5100G>T
- NM_001386166.1:c.3505G>T
- NM_001386167.1:c.827-5100G>T
- NM_001386174.1:c.7246G>T
- NM_001386175.1:c.7222G>T
- NM_001386186.2:c.4412-5100G>T
- NM_001386187.2:c.4292-5100G>T
- NM_020977.5:c.4427-5100G>T
- NP_001139.3:p.Val2369Phe
- NP_001373071.1:p.Val2291Phe
- NP_001373095.1:p.Val1169Phe
- NP_001373103.1:p.Val2416Phe
- NP_001373104.1:p.Val2408Phe
- LRG_327t1:c.7105G>T
- LRG_327:g.542641G>T
- NC_000004.11:g.114276879G>T
- NM_001148.4:c.7105G>T
This HGVS expression did not pass validation- Protein change:
- V1169F
- Links:
- dbSNP: rs758054052
- NCBI 1000 Genomes Browser:
- rs758054052
- Molecular consequence:
- NM_001127493.3:c.4400-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4439-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4328-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4406-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4469-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4463-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4424-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4325-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4505-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4397-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4472-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4472-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4469-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4364-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4361-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4265-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4424-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4241-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4397-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4202-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4376-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4364-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4361-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4166-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4328-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4142-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4286-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4265-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4262-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4424-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4241-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4241-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4229-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4214-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4202-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4142-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4298-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4127-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4193-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4265-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4241-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4043-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1955-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1991-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1976-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1955-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1991-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4364-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4472-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4208-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4253-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4412-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4208-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4208-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4142-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4484-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4208-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4193-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4166-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4043-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3944-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4271-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4361-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4241-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.827-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4412-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4292-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4427-5100G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.7105G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.6871G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.3505G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.7246G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.7222G>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 |
|---|---|---|---|---|---|---|
| SCV000286256 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Mar 7, 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
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, SCV000286256.4
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 238587). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is present in population databases (rs758054052, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2369 of the ANK2 protein (p.Val2369Phe).
| # | 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