NM_001148.6(ANK2):c.11693A>T (p.Lys3898Met) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 10, 2020
- 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:
- RCV002328086.2
Allele description [Variation Report for NM_001148.6(ANK2):c.11693A>T (p.Lys3898Met)]
NM_001148.6(ANK2):c.11693A>T (p.Lys3898Met)
- Gene:
- ANK2:ankyrin 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.11693A>T (p.Lys3898Met)
- HGVS:
- NC_000004.12:g.113373172A>T
- NG_009006.2:g.560090A>T
- NM_001127493.3:c.5411A>T
- NM_001148.6:c.11693A>TMANE SELECT
- NM_001354225.2:c.5450A>T
- NM_001354228.2:c.5432A>T
- NM_001354230.2:c.5417A>T
- NM_001354231.2:c.5573A>T
- NM_001354232.2:c.5567A>T
- NM_001354235.2:c.5528A>T
- NM_001354236.2:c.5336A>T
- NM_001354237.2:c.5516A>T
- NM_001354239.2:c.5501A>T
- NM_001354240.2:c.5483A>T
- NM_001354241.2:c.5483A>T
- NM_001354242.2:c.5480A>T
- NM_001354243.2:c.5468A>T
- NM_001354244.2:c.5465A>T
- NM_001354245.2:c.5276A>T
- NM_001354246.2:c.5435A>T
- NM_001354249.2:c.5252A>T
- NM_001354252.2:c.5408A>T
- NM_001354253.2:c.5213A>T
- NM_001354254.2:c.5387A>T
- NM_001354255.2:c.5375A>T
- NM_001354256.2:c.5372A>T
- NM_001354257.2:c.5177A>T
- NM_001354258.2:c.5339A>T
- NM_001354260.2:c.5153A>T
- NM_001354261.2:c.5297A>T
- NM_001354262.2:c.5276A>T
- NM_001354264.2:c.5273A>T
- NM_001354265.2:c.5435A>T
- NM_001354266.2:c.5252A>T
- NM_001354267.2:c.5252A>T
- NM_001354268.2:c.5240A>T
- NM_001354269.3:c.5225A>T
- NM_001354270.2:c.5213A>T
- NM_001354271.2:c.5153A>T
- NM_001354272.2:c.5309A>T
- NM_001354273.2:c.5138A>T
- NM_001354274.2:c.5297A>T
- NM_001354275.2:c.5276A>T
- NM_001354276.2:c.5252A>T
- NM_001354277.2:c.5054A>T
- NM_001354278.2:c.2966A>T
- NM_001354279.2:c.3002A>T
- NM_001354280.2:c.2987A>T
- NM_001354281.2:c.2966A>T
- NM_001354282.2:c.3002A>T
- NM_001386142.1:c.11459A>T
- NM_001386143.1:c.5468A>T
- NM_001386144.1:c.5576A>T
- NM_001386146.1:c.5312A>T
- NM_001386147.1:c.5264A>T
- NM_001386148.2:c.5423A>T
- NM_001386149.1:c.5219A>T
- NM_001386150.1:c.5312A>T
- NM_001386151.1:c.5246A>T
- NM_001386152.1:c.5412+3367A>T
- NM_001386153.1:c.5219A>T
- NM_001386154.1:c.5204A>T
- NM_001386156.1:c.5177A>T
- NM_001386157.1:c.5054A>T
- NM_001386158.1:c.4955A>T
- NM_001386160.1:c.5282A>T
- NM_001386161.1:c.5372A>T
- NM_001386162.1:c.5252A>T
- NM_001386166.1:c.8093A>T
- NM_001386167.1:c.1931A>T
- NM_001386174.1:c.11927A>T
- NM_001386175.1:c.11903A>T
- NM_001386186.2:c.5423A>T
- NM_001386187.2:c.5303A>T
- NM_020977.5:c.5438A>T
- NP_001120965.1:p.Lys1804Met
- NP_001120965.1:p.Lys1804Met
- NP_001139.3:p.Lys3898Met
- NP_001139.3:p.Lys3898Met
- NP_001341154.1:p.Lys1817Met
- NP_001341157.1:p.Lys1811Met
- NP_001341159.1:p.Lys1806Met
- NP_001341160.1:p.Lys1858Met
- NP_001341161.1:p.Lys1856Met
- NP_001341164.1:p.Lys1843Met
- NP_001341165.1:p.Lys1779Met
- NP_001341166.1:p.Lys1839Met
- NP_001341168.1:p.Lys1834Met
- NP_001341169.1:p.Lys1828Met
- NP_001341170.1:p.Lys1828Met
- NP_001341171.1:p.Lys1827Met
- NP_001341172.1:p.Lys1823Met
- NP_001341173.1:p.Lys1822Met
- NP_001341174.1:p.Lys1759Met
- NP_001341175.1:p.Lys1812Met
- NP_001341178.1:p.Lys1751Met
- NP_001341181.1:p.Lys1803Met
- NP_001341182.1:p.Lys1738Met
- NP_001341183.1:p.Lys1796Met
- NP_001341184.1:p.Lys1792Met
- NP_001341185.1:p.Lys1791Met
- NP_001341186.1:p.Lys1726Met
- NP_001341187.1:p.Lys1780Met
- NP_001341189.1:p.Lys1718Met
- NP_001341190.1:p.Lys1766Met
- NP_001341191.1:p.Lys1759Met
- NP_001341193.1:p.Lys1758Met
- NP_001341194.1:p.Lys1812Met
- NP_001341195.1:p.Lys1751Met
- NP_001341196.1:p.Lys1751Met
- NP_001341197.1:p.Lys1747Met
- NP_001341198.1:p.Lys1742Met
- NP_001341199.1:p.Lys1738Met
- NP_001341200.1:p.Lys1718Met
- NP_001341201.1:p.Lys1770Met
- NP_001341202.1:p.Lys1713Met
- NP_001341203.1:p.Lys1766Met
- NP_001341204.1:p.Lys1759Met
- NP_001341205.1:p.Lys1751Met
- NP_001341206.1:p.Lys1685Met
- NP_001341207.1:p.Lys989Met
- NP_001341208.1:p.Lys1001Met
- NP_001341209.1:p.Lys996Met
- NP_001341210.1:p.Lys989Met
- NP_001341211.1:p.Lys1001Met
- NP_001373071.1:p.Lys3820Met
- NP_001373072.1:p.Lys1823Met
- NP_001373073.1:p.Lys1859Met
- NP_001373075.1:p.Lys1771Met
- NP_001373076.1:p.Lys1755Met
- NP_001373077.1:p.Lys1808Met
- NP_001373078.1:p.Lys1740Met
- NP_001373079.1:p.Lys1771Met
- NP_001373080.1:p.Lys1749Met
- NP_001373082.1:p.Lys1740Met
- NP_001373083.1:p.Lys1735Met
- NP_001373085.1:p.Lys1726Met
- NP_001373086.1:p.Lys1685Met
- NP_001373087.1:p.Lys1652Met
- NP_001373089.1:p.Lys1761Met
- NP_001373090.1:p.Lys1791Met
- NP_001373091.1:p.Lys1751Met
- NP_001373095.1:p.Lys2698Met
- NP_001373096.1:p.Lys644Met
- NP_001373103.1:p.Lys3976Met
- NP_001373104.1:p.Lys3968Met
- NP_001373115.1:p.Lys1808Met
- NP_001373116.1:p.Lys1768Met
- NP_066187.2:p.Lys1813Met
- LRG_327t1:c.11693A>T
- LRG_327t2:c.5411A>T
- LRG_327:g.560090A>T
- LRG_327p1:p.Lys3898Met
- LRG_327p2:p.Lys1804Met
- NC_000004.11:g.114294328A>T
- NM_001127493.1:c.5411A>T
- NM_001148.4:c.11693A>T
This HGVS expression did not pass validation- Protein change:
- K1001M
- Molecular consequence:
- NM_001386152.1:c.5412+3367A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001127493.3:c.5411A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001148.6:c.11693A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354225.2:c.5450A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354228.2:c.5432A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354230.2:c.5417A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354231.2:c.5573A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354232.2:c.5567A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354235.2:c.5528A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354236.2:c.5336A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354237.2:c.5516A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354239.2:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354240.2:c.5483A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354241.2:c.5483A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354242.2:c.5480A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354243.2:c.5468A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354244.2:c.5465A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354245.2:c.5276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354246.2:c.5435A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354249.2:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354252.2:c.5408A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354253.2:c.5213A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354254.2:c.5387A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354255.2:c.5375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354256.2:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354257.2:c.5177A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354258.2:c.5339A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354260.2:c.5153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354261.2:c.5297A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354262.2:c.5276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354264.2:c.5273A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354265.2:c.5435A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354266.2:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354267.2:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354268.2:c.5240A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354269.3:c.5225A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354270.2:c.5213A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354271.2:c.5153A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354272.2:c.5309A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354273.2:c.5138A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354274.2:c.5297A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354275.2:c.5276A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354276.2:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354277.2:c.5054A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354278.2:c.2966A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354279.2:c.3002A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354280.2:c.2987A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354281.2:c.2966A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354282.2:c.3002A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.11459A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386143.1:c.5468A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386144.1:c.5576A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386146.1:c.5312A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386147.1:c.5264A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386148.2:c.5423A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386149.1:c.5219A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386150.1:c.5312A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386151.1:c.5246A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386153.1:c.5219A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386154.1:c.5204A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386156.1:c.5177A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386157.1:c.5054A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386158.1:c.4955A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386160.1:c.5282A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386161.1:c.5372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386162.1:c.5252A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.8093A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386167.1:c.1931A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.11927A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.11903A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386186.2:c.5423A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386187.2:c.5303A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_020977.5:c.5438A>T - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
gamma-enolase-like [Oncorhynchus kisutch]
gamma-enolase-like [Oncorhynchus kisutch]gi|1782205807|ref|XP_031642090.1|Protein
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See more...Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV002630773 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Aug 10, 2020) | 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 |
Details of each submission
From Ambry Genetics, SCV002630773.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.K3898M variant (also known as c.11693A>T), located in coding exon 44 of the ANK2 gene, results from an A to T substitution at nucleotide position 11693. The lysine at codon 3898 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
| # | 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