NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) AND not provided
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jun 1, 2023
- 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:
- RCV000474063.35
Allele description [Variation Report for NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)]
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)
- Gene:
- ANK2:ankyrin 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)
- Other names:
- p.R3906W:CGG>TGG
- HGVS:
- NC_000004.12:g.113373306C>T
- NG_009006.2:g.560224C>T
- NM_001127493.3:c.5434C>T
- NM_001148.6:c.11716C>TMANE SELECT
- NM_001354225.2:c.5473C>T
- NM_001354228.2:c.5455C>T
- NM_001354230.2:c.5440C>T
- NM_001354231.2:c.5596C>T
- NM_001354232.2:c.5590C>T
- NM_001354235.2:c.5551C>T
- NM_001354236.2:c.5359C>T
- NM_001354237.2:c.5539C>T
- NM_001354239.2:c.5524C>T
- NM_001354240.2:c.5506C>T
- NM_001354241.2:c.5506C>T
- NM_001354242.2:c.5503C>T
- NM_001354243.2:c.5491C>T
- NM_001354244.2:c.5488C>T
- NM_001354245.2:c.5299C>T
- NM_001354246.2:c.5458C>T
- NM_001354249.2:c.5275C>T
- NM_001354252.2:c.5431C>T
- NM_001354253.2:c.5236C>T
- NM_001354254.2:c.5410C>T
- NM_001354255.2:c.5398C>T
- NM_001354256.2:c.5395C>T
- NM_001354257.2:c.5200C>T
- NM_001354258.2:c.5362C>T
- NM_001354260.2:c.5176C>T
- NM_001354261.2:c.5320C>T
- NM_001354262.2:c.5299C>T
- NM_001354264.2:c.5296C>T
- NM_001354265.2:c.5436+133C>T
- NM_001354266.2:c.5275C>T
- NM_001354267.2:c.5275C>T
- NM_001354268.2:c.5263C>T
- NM_001354269.3:c.5248C>T
- NM_001354270.2:c.5236C>T
- NM_001354271.2:c.5176C>T
- NM_001354272.2:c.5310+133C>T
- NM_001354273.2:c.5161C>T
- NM_001354274.2:c.5298+133C>T
- NM_001354275.2:c.5277+133C>T
- NM_001354276.2:c.5253+133C>T
- NM_001354277.2:c.5055+133C>T
- NM_001354278.2:c.2989C>T
- NM_001354279.2:c.3025C>T
- NM_001354280.2:c.3010C>T
- NM_001354281.2:c.2989C>T
- NM_001354282.2:c.3003+133C>T
- NM_001386142.1:c.11482C>T
- NM_001386143.1:c.5491C>T
- NM_001386144.1:c.5599C>T
- NM_001386146.1:c.5335C>T
- NM_001386147.1:c.5287C>T
- NM_001386148.2:c.5446C>T
- NM_001386149.1:c.5242C>T
- NM_001386150.1:c.5335C>T
- NM_001386151.1:c.5269C>T
- NM_001386152.1:c.5412+3501C>T
- NM_001386153.1:c.5242C>T
- NM_001386154.1:c.5227C>T
- NM_001386156.1:c.5200C>T
- NM_001386157.1:c.5077C>T
- NM_001386158.1:c.4978C>T
- NM_001386160.1:c.5305C>T
- NM_001386161.1:c.5395C>T
- NM_001386162.1:c.5253+133C>T
- NM_001386166.1:c.8116C>T
- NM_001386167.1:c.1954C>T
- NM_001386174.1:c.11950C>T
- NM_001386175.1:c.11926C>T
- NM_001386186.2:c.5446C>T
- NM_001386187.2:c.5326C>T
- NM_020977.5:c.5461C>T
- NP_001120965.1:p.Arg1812Trp
- NP_001139.3:p.Arg3906Trp
- NP_001341154.1:p.Arg1825Trp
- NP_001341157.1:p.Arg1819Trp
- NP_001341159.1:p.Arg1814Trp
- NP_001341160.1:p.Arg1866Trp
- NP_001341161.1:p.Arg1864Trp
- NP_001341164.1:p.Arg1851Trp
- NP_001341165.1:p.Arg1787Trp
- NP_001341166.1:p.Arg1847Trp
- NP_001341168.1:p.Arg1842Trp
- NP_001341169.1:p.Arg1836Trp
- NP_001341170.1:p.Arg1836Trp
- NP_001341171.1:p.Arg1835Trp
- NP_001341172.1:p.Arg1831Trp
- NP_001341173.1:p.Arg1830Trp
- NP_001341174.1:p.Arg1767Trp
- NP_001341175.1:p.Arg1820Trp
- NP_001341178.1:p.Arg1759Trp
- NP_001341181.1:p.Arg1811Trp
- NP_001341182.1:p.Arg1746Trp
- NP_001341183.1:p.Arg1804Trp
- NP_001341184.1:p.Arg1800Trp
- NP_001341185.1:p.Arg1799Trp
- NP_001341186.1:p.Arg1734Trp
- NP_001341187.1:p.Arg1788Trp
- NP_001341189.1:p.Arg1726Trp
- NP_001341190.1:p.Arg1774Trp
- NP_001341191.1:p.Arg1767Trp
- NP_001341193.1:p.Arg1766Trp
- NP_001341195.1:p.Arg1759Trp
- NP_001341196.1:p.Arg1759Trp
- NP_001341197.1:p.Arg1755Trp
- NP_001341198.1:p.Arg1750Trp
- NP_001341199.1:p.Arg1746Trp
- NP_001341200.1:p.Arg1726Trp
- NP_001341202.1:p.Arg1721Trp
- NP_001341207.1:p.Arg997Trp
- NP_001341208.1:p.Arg1009Trp
- NP_001341209.1:p.Arg1004Trp
- NP_001341210.1:p.Arg997Trp
- NP_001373071.1:p.Arg3828Trp
- NP_001373072.1:p.Arg1831Trp
- NP_001373073.1:p.Arg1867Trp
- NP_001373075.1:p.Arg1779Trp
- NP_001373076.1:p.Arg1763Trp
- NP_001373077.1:p.Arg1816Trp
- NP_001373078.1:p.Arg1748Trp
- NP_001373079.1:p.Arg1779Trp
- NP_001373080.1:p.Arg1757Trp
- NP_001373082.1:p.Arg1748Trp
- NP_001373083.1:p.Arg1743Trp
- NP_001373085.1:p.Arg1734Trp
- NP_001373086.1:p.Arg1693Trp
- NP_001373087.1:p.Arg1660Trp
- NP_001373089.1:p.Arg1769Trp
- NP_001373090.1:p.Arg1799Trp
- NP_001373095.1:p.Arg2706Trp
- NP_001373096.1:p.Arg652Trp
- NP_001373103.1:p.Arg3984Trp
- NP_001373104.1:p.Arg3976Trp
- NP_001373115.1:p.Arg1816Trp
- NP_001373116.1:p.Arg1776Trp
- NP_066187.2:p.Arg1821Trp
- LRG_327t1:c.11716C>T
- LRG_327:g.560224C>T
- NC_000004.11:g.114294462C>T
- NM_001148.4:c.11716C>T
- Q01484:p.Arg3906Trp
This HGVS expression did not pass validation- Protein change:
- R1004W; ARG1788TRP
- Links:
- UniProtKB: Q01484#VAR_022937; OMIM: 106410.0004; dbSNP: rs121912706
- NCBI 1000 Genomes Browser:
- rs121912706
- Molecular consequence:
- NM_001354265.2:c.5436+133C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.5310+133C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.5298+133C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.5277+133C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.5253+133C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.5055+133C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.3003+133C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.5412+3501C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.5253+133C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001127493.3:c.5434C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001148.6:c.11716C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354225.2:c.5473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354228.2:c.5455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354230.2:c.5440C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354231.2:c.5596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354232.2:c.5590C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354235.2:c.5551C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354236.2:c.5359C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354237.2:c.5539C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354239.2:c.5524C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354240.2:c.5506C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354241.2:c.5506C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354242.2:c.5503C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354243.2:c.5491C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354244.2:c.5488C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354245.2:c.5299C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354246.2:c.5458C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354249.2:c.5275C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354252.2:c.5431C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354253.2:c.5236C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354254.2:c.5410C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354255.2:c.5398C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354256.2:c.5395C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354257.2:c.5200C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354258.2:c.5362C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354260.2:c.5176C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354261.2:c.5320C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354262.2:c.5299C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354264.2:c.5296C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354266.2:c.5275C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354267.2:c.5275C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354268.2:c.5263C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354269.3:c.5248C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354270.2:c.5236C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354271.2:c.5176C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354273.2:c.5161C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354278.2:c.2989C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354279.2:c.3025C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354280.2:c.3010C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354281.2:c.2989C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.11482C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386143.1:c.5491C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386144.1:c.5599C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386146.1:c.5335C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386147.1:c.5287C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386148.2:c.5446C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386149.1:c.5242C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386150.1:c.5335C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386151.1:c.5269C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386153.1:c.5242C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386154.1:c.5227C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386156.1:c.5200C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386157.1:c.5077C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386158.1:c.4978C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386160.1:c.5305C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386161.1:c.5395C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.8116C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386167.1:c.1954C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.11950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.11926C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386186.2:c.5446C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386187.2:c.5326C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_020977.5:c.5461C>T - missense variant - [Sequence Ontology: SO:0001583]
- Observations:
- 6
Condition(s)
- Synonyms:
- none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000223217 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Likely benign (Jun 1, 2023) | germline | clinical testing | |
| SCV001154266 | CeGaT Center for Human Genetics Tuebingen | criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) | Benign (Dec 1, 2022) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | 6 | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From GeneDx, SCV000223217.14
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
See Variant Classification Assertion Criteria.
| # | 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 | |
From CeGaT Center for Human Genetics Tuebingen, SCV001154266.28
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 6 | not provided | not provided | clinical testing | not provided |
Description
ANK2: BS1, BS2
| # | 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 | 6 | not provided | not provided | not provided | |
Last Updated: Dec 22, 2024