NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 3, 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:
- RCV000618056.12
Allele description [Variation Report for NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)]
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
- Gene:
- ANK2:ankyrin 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
- Other names:
- p.T3744N:ACT>AAT
- HGVS:
- NC_000004.12:g.113367764C>A
- NG_009006.2:g.554682C>A
- NM_001127493.3:c.4949C>A
- NM_001148.6:c.11231C>AMANE SELECT
- NM_001354225.2:c.4988C>A
- NM_001354228.2:c.4877C>A
- NM_001354230.2:c.4955C>A
- NM_001354231.2:c.5018C>A
- NM_001354232.2:c.5012C>A
- NM_001354235.2:c.4973C>A
- NM_001354236.2:c.4874C>A
- NM_001354237.2:c.5054C>A
- NM_001354239.2:c.4946C>A
- NM_001354240.2:c.5021C>A
- NM_001354241.2:c.5021C>A
- NM_001354242.2:c.5018C>A
- NM_001354243.2:c.4913C>A
- NM_001354244.2:c.4910C>A
- NM_001354245.2:c.4814C>A
- NM_001354246.2:c.4973C>A
- NM_001354249.2:c.4790C>A
- NM_001354252.2:c.4946C>A
- NM_001354253.2:c.4751C>A
- NM_001354254.2:c.4925C>A
- NM_001354255.2:c.4913C>A
- NM_001354256.2:c.4910C>A
- NM_001354257.2:c.4715C>A
- NM_001354258.2:c.4877C>A
- NM_001354260.2:c.4691C>A
- NM_001354261.2:c.4835C>A
- NM_001354262.2:c.4814C>A
- NM_001354264.2:c.4811C>A
- NM_001354265.2:c.4973C>A
- NM_001354266.2:c.4790C>A
- NM_001354267.2:c.4790C>A
- NM_001354268.2:c.4778C>A
- NM_001354269.3:c.4763C>A
- NM_001354270.2:c.4751C>A
- NM_001354271.2:c.4691C>A
- NM_001354272.2:c.4847C>A
- NM_001354273.2:c.4676C>A
- NM_001354274.2:c.4742C>A
- NM_001354275.2:c.4814C>A
- NM_001354276.2:c.4790C>A
- NM_001354277.2:c.4592C>A
- NM_001354278.2:c.2504C>A
- NM_001354279.2:c.2540C>A
- NM_001354280.2:c.2525C>A
- NM_001354281.2:c.2504C>A
- NM_001354282.2:c.2540C>A
- NM_001386142.1:c.10997C>A
- NM_001386143.1:c.4913C>A
- NM_001386144.1:c.5021C>A
- NM_001386146.1:c.4757C>A
- NM_001386147.1:c.4802C>A
- NM_001386148.2:c.4961C>A
- NM_001386149.1:c.4757C>A
- NM_001386150.1:c.4757C>A
- NM_001386151.1:c.4691C>A
- NM_001386152.1:c.5033C>A
- NM_001386153.1:c.4757C>A
- NM_001386154.1:c.4742C>A
- NM_001386156.1:c.4715C>A
- NM_001386157.1:c.4592C>A
- NM_001386158.1:c.4493C>A
- NM_001386160.1:c.4820C>A
- NM_001386161.1:c.4910C>A
- NM_001386162.1:c.4790C>A
- NM_001386166.1:c.7631C>A
- NM_001386167.1:c.1376C>A
- NM_001386174.1:c.11372C>A
- NM_001386175.1:c.11348C>A
- NM_001386186.2:c.4961C>A
- NM_001386187.2:c.4841C>A
- NM_020977.5:c.4976C>A
- NP_001120965.1:p.Thr1650Asn
- NP_001139.3:p.Thr3744Asn
- NP_001341154.1:p.Thr1663Asn
- NP_001341157.1:p.Thr1626Asn
- NP_001341159.1:p.Thr1652Asn
- NP_001341160.1:p.Thr1673Asn
- NP_001341161.1:p.Thr1671Asn
- NP_001341164.1:p.Thr1658Asn
- NP_001341165.1:p.Thr1625Asn
- NP_001341166.1:p.Thr1685Asn
- NP_001341168.1:p.Thr1649Asn
- NP_001341169.1:p.Thr1674Asn
- NP_001341170.1:p.Thr1674Asn
- NP_001341171.1:p.Thr1673Asn
- NP_001341172.1:p.Thr1638Asn
- NP_001341173.1:p.Thr1637Asn
- NP_001341174.1:p.Thr1605Asn
- NP_001341175.1:p.Thr1658Asn
- NP_001341178.1:p.Thr1597Asn
- NP_001341181.1:p.Thr1649Asn
- NP_001341182.1:p.Thr1584Asn
- NP_001341183.1:p.Thr1642Asn
- NP_001341184.1:p.Thr1638Asn
- NP_001341185.1:p.Thr1637Asn
- NP_001341186.1:p.Thr1572Asn
- NP_001341187.1:p.Thr1626Asn
- NP_001341189.1:p.Thr1564Asn
- NP_001341190.1:p.Thr1612Asn
- NP_001341191.1:p.Thr1605Asn
- NP_001341193.1:p.Thr1604Asn
- NP_001341194.1:p.Thr1658Asn
- NP_001341195.1:p.Thr1597Asn
- NP_001341196.1:p.Thr1597Asn
- NP_001341197.1:p.Thr1593Asn
- NP_001341198.1:p.Thr1588Asn
- NP_001341199.1:p.Thr1584Asn
- NP_001341200.1:p.Thr1564Asn
- NP_001341201.1:p.Thr1616Asn
- NP_001341202.1:p.Thr1559Asn
- NP_001341203.1:p.Thr1581Asn
- NP_001341204.1:p.Thr1605Asn
- NP_001341205.1:p.Thr1597Asn
- NP_001341206.1:p.Thr1531Asn
- NP_001341207.1:p.Thr835Asn
- NP_001341208.1:p.Thr847Asn
- NP_001341209.1:p.Thr842Asn
- NP_001341210.1:p.Thr835Asn
- NP_001341211.1:p.Thr847Asn
- NP_001373071.1:p.Thr3666Asn
- NP_001373072.1:p.Thr1638Asn
- NP_001373073.1:p.Thr1674Asn
- NP_001373075.1:p.Thr1586Asn
- NP_001373076.1:p.Thr1601Asn
- NP_001373077.1:p.Thr1654Asn
- NP_001373078.1:p.Thr1586Asn
- NP_001373079.1:p.Thr1586Asn
- NP_001373080.1:p.Thr1564Asn
- NP_001373081.1:p.Thr1678Asn
- NP_001373082.1:p.Thr1586Asn
- NP_001373083.1:p.Thr1581Asn
- NP_001373085.1:p.Thr1572Asn
- NP_001373086.1:p.Thr1531Asn
- NP_001373087.1:p.Thr1498Asn
- NP_001373089.1:p.Thr1607Asn
- NP_001373090.1:p.Thr1637Asn
- NP_001373091.1:p.Thr1597Asn
- NP_001373095.1:p.Thr2544Asn
- NP_001373096.1:p.Thr459Asn
- NP_001373103.1:p.Thr3791Asn
- NP_001373104.1:p.Thr3783Asn
- NP_001373115.1:p.Thr1654Asn
- NP_001373116.1:p.Thr1614Asn
- NP_066187.2:p.Thr1659Asn
- LRG_327t1:c.11231C>A
- LRG_327:g.554682C>A
- NC_000004.11:g.114288920C>A
- NM_001148.4:c.11231C>A
- NM_001148.5:c.11231C>A
- Q01484:p.Thr3744Asn
This HGVS expression did not pass validation- Protein change:
- T1498N; THR1626ASN
- Links:
- UniProtKB: Q01484#VAR_022936; OMIM: 106410.0002; dbSNP: rs121912705
- NCBI 1000 Genomes Browser:
- rs121912705
- Molecular consequence:
- NM_001127493.3:c.4949C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001148.6:c.11231C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354225.2:c.4988C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354228.2:c.4877C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354230.2:c.4955C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354231.2:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354232.2:c.5012C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354235.2:c.4973C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354236.2:c.4874C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354237.2:c.5054C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354239.2:c.4946C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354240.2:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354241.2:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354242.2:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354243.2:c.4913C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354244.2:c.4910C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354245.2:c.4814C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354246.2:c.4973C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354249.2:c.4790C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354252.2:c.4946C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354253.2:c.4751C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354254.2:c.4925C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354255.2:c.4913C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354256.2:c.4910C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354257.2:c.4715C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354258.2:c.4877C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354260.2:c.4691C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354261.2:c.4835C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354262.2:c.4814C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354264.2:c.4811C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354265.2:c.4973C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354266.2:c.4790C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354267.2:c.4790C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354268.2:c.4778C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354269.3:c.4763C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354270.2:c.4751C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354271.2:c.4691C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354272.2:c.4847C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354273.2:c.4676C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354274.2:c.4742C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354275.2:c.4814C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354276.2:c.4790C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354277.2:c.4592C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354278.2:c.2504C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354279.2:c.2540C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354280.2:c.2525C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354281.2:c.2504C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354282.2:c.2540C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.10997C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386143.1:c.4913C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386144.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386146.1:c.4757C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386147.1:c.4802C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386148.2:c.4961C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386149.1:c.4757C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386150.1:c.4757C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386151.1:c.4691C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386152.1:c.5033C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386153.1:c.4757C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386154.1:c.4742C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386156.1:c.4715C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386157.1:c.4592C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386158.1:c.4493C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386160.1:c.4820C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386161.1:c.4910C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386162.1:c.4790C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.7631C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386167.1:c.1376C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.11372C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.11348C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386186.2:c.4961C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386187.2:c.4841C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_020977.5:c.4976C>A - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
LOC117420909 [Acipenser ruthenus]
LOC117420909 [Acipenser ruthenus]Gene ID:117420909Gene
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See more...Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000737813 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely benign (Mar 3, 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 |
Details of each submission
From Ambry Genetics, SCV000737813.5
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
| # | 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: Nov 10, 2024