NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile) AND not provided
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 28, 2021
- 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:
- RCV000171607.12
Allele description [Variation Report for NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile)]
NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile)
- Gene:
- ANK2:ankyrin 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile)
- HGVS:
- NC_000004.12:g.113358534G>A
- NG_009006.2:g.545452G>A
- NM_001127493.3:c.4400-2289G>A
- NM_001148.6:c.9916G>AMANE SELECT
- NM_001354225.2:c.4439-2289G>A
- NM_001354228.2:c.4328-2289G>A
- NM_001354230.2:c.4406-2289G>A
- NM_001354231.2:c.4469-2289G>A
- NM_001354232.2:c.4463-2289G>A
- NM_001354235.2:c.4424-2289G>A
- NM_001354236.2:c.4325-2289G>A
- NM_001354237.2:c.4505-2289G>A
- NM_001354239.2:c.4397-2289G>A
- NM_001354240.2:c.4472-2289G>A
- NM_001354241.2:c.4472-2289G>A
- NM_001354242.2:c.4469-2289G>A
- NM_001354243.2:c.4364-2289G>A
- NM_001354244.2:c.4361-2289G>A
- NM_001354245.2:c.4265-2289G>A
- NM_001354246.2:c.4424-2289G>A
- NM_001354249.2:c.4241-2289G>A
- NM_001354252.2:c.4397-2289G>A
- NM_001354253.2:c.4202-2289G>A
- NM_001354254.2:c.4376-2289G>A
- NM_001354255.2:c.4364-2289G>A
- NM_001354256.2:c.4361-2289G>A
- NM_001354257.2:c.4166-2289G>A
- NM_001354258.2:c.4328-2289G>A
- NM_001354260.2:c.4142-2289G>A
- NM_001354261.2:c.4286-2289G>A
- NM_001354262.2:c.4265-2289G>A
- NM_001354264.2:c.4262-2289G>A
- NM_001354265.2:c.4424-2289G>A
- NM_001354266.2:c.4241-2289G>A
- NM_001354267.2:c.4241-2289G>A
- NM_001354268.2:c.4229-2289G>A
- NM_001354269.3:c.4214-2289G>A
- NM_001354270.2:c.4202-2289G>A
- NM_001354271.2:c.4142-2289G>A
- NM_001354272.2:c.4298-2289G>A
- NM_001354273.2:c.4127-2289G>A
- NM_001354274.2:c.4193-2289G>A
- NM_001354275.2:c.4265-2289G>A
- NM_001354276.2:c.4241-2289G>A
- NM_001354277.2:c.4043-2289G>A
- NM_001354278.2:c.1955-2289G>A
- NM_001354279.2:c.1991-2289G>A
- NM_001354280.2:c.1976-2289G>A
- NM_001354281.2:c.1955-2289G>A
- NM_001354282.2:c.1991-2289G>A
- NM_001386142.1:c.9682G>A
- NM_001386143.1:c.4364-2289G>A
- NM_001386144.1:c.4472-2289G>A
- NM_001386146.1:c.4208-2289G>A
- NM_001386147.1:c.4253-2289G>A
- NM_001386148.2:c.4412-2289G>A
- NM_001386149.1:c.4208-2289G>A
- NM_001386150.1:c.4208-2289G>A
- NM_001386151.1:c.4142-2289G>A
- NM_001386152.1:c.4484-2289G>A
- NM_001386153.1:c.4208-2289G>A
- NM_001386154.1:c.4193-2289G>A
- NM_001386156.1:c.4166-2289G>A
- NM_001386157.1:c.4043-2289G>A
- NM_001386158.1:c.3944-2289G>A
- NM_001386160.1:c.4271-2289G>A
- NM_001386161.1:c.4361-2289G>A
- NM_001386162.1:c.4241-2289G>A
- NM_001386166.1:c.6316G>A
- NM_001386167.1:c.827-2289G>A
- NM_001386174.1:c.10057G>A
- NM_001386175.1:c.10033G>A
- NM_001386186.2:c.4412-2289G>A
- NM_001386187.2:c.4292-2289G>A
- NM_020977.5:c.4427-2289G>A
- NP_001139.3:p.Val3306Ile
- NP_001373071.1:p.Val3228Ile
- NP_001373095.1:p.Val2106Ile
- NP_001373103.1:p.Val3353Ile
- NP_001373104.1:p.Val3345Ile
- LRG_327t1:c.9916G>A
- LRG_327:g.545452G>A
- NC_000004.11:g.114279690G>A
- NM_001148.4:c.9916G>A
This HGVS expression did not pass validation- Protein change:
- V2106I
- Links:
- dbSNP: rs200922244
- NCBI 1000 Genomes Browser:
- rs200922244
- Molecular consequence:
- NM_001127493.3:c.4400-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4439-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4328-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4406-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4469-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4463-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4424-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4325-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4505-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4397-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4472-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4472-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4469-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4364-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4361-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4265-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4424-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4241-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4397-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4202-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4376-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4364-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4361-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4166-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4328-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4142-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4286-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4265-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4262-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4424-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4241-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4241-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4229-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4214-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4202-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4142-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4298-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4127-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4193-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4265-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4241-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4043-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1955-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1991-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1976-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1955-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1991-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4364-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4472-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4208-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4253-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4412-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4208-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4208-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4142-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4484-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4208-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4193-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4166-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4043-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3944-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4271-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4361-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4241-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.827-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4412-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4292-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4427-2289G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.9916G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.9682G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.6316G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.10057G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.10033G>A - 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 |
|---|---|---|---|---|---|---|
| SCV000055260 | Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq | criteria provided, single submitter (Ng et al. (Circ Cardiovasc Genet. 2013)) | Uncertain significance (Jun 24, 2013) | unknown | research | |
| SCV001758838 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Uncertain significance (Jun 28, 2021) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | unknown | unknown | 1 | not provided | not provided | not provided | not provided | research |
| not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Interpreting secondary cardiac disease variants in an exome cohort.
Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..
Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.
PubMed [citation]
- PMID:
- 23861362
- PMCID:
- PMC3887521
Details of each submission
From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000055260.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | research | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | unknown | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
From GeneDx, SCV001758838.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Located in exon 38, which is reported as being expressed in a brain-specific transcript (Otto et al, 1991; Cunha et al, 2008; Wu et al, 2015); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 191415; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 26582918)
| # | 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 | |
Last Updated: Oct 8, 2024