NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 26, 2024
- 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:
- RCV000170682.9
Allele description [Variation Report for NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe)]
NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe)
- Gene:
- ANK2:ankyrin 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe)
- Other names:
- p.S646F:TCC>TTC
- HGVS:
- NC_000004.12:g.113282730C>T
- NG_009006.2:g.469648C>T
- NM_001127493.3:c.1874C>T
- NM_001148.6:c.1937C>TMANE SELECT
- NM_001354225.2:c.1937C>T
- NM_001354228.2:c.1937C>T
- NM_001354230.2:c.1982C>T
- NM_001354231.2:c.1982C>T
- NM_001354232.2:c.1937C>T
- NM_001354235.2:c.1937C>T
- NM_001354236.2:c.1937C>T
- NM_001354237.2:c.1982C>T
- NM_001354239.2:c.1874C>T
- NM_001354240.2:c.1982C>T
- NM_001354241.2:c.1982C>T
- NM_001354242.2:c.1982C>T
- NM_001354243.2:c.1874C>T
- NM_001354244.2:c.1874C>T
- NM_001354245.2:c.1838C>T
- NM_001354246.2:c.1937C>T
- NM_001354249.2:c.1850C>T
- NM_001354252.2:c.1874C>T
- NM_001354253.2:c.1775C>T
- NM_001354254.2:c.1874C>T
- NM_001354255.2:c.1874C>T
- NM_001354256.2:c.1874C>T
- NM_001354257.2:c.1775C>T
- NM_001354258.2:c.1937C>T
- NM_001354260.2:c.1751C>T
- NM_001354261.2:c.1895C>T
- NM_001354262.2:c.1874C>T
- NM_001354264.2:c.1850C>T
- NM_001354265.2:c.1937C>T
- NM_001354266.2:c.1850C>T
- NM_001354267.2:c.1850C>T
- NM_001354268.2:c.1838C>T
- NM_001354269.3:c.1727C>T
- NM_001354270.2:c.1775C>T
- NM_001354271.2:c.1751C>T
- NM_001354272.2:c.1874C>T
- NM_001354273.2:c.1739C>T
- NM_001354274.2:c.1850C>T
- NM_001354275.2:c.1874C>T
- NM_001354276.2:c.1850C>T
- NM_001354277.2:c.1652C>T
- NM_001386142.1:c.1850C>T
- NM_001386143.1:c.1874C>T
- NM_001386144.1:c.1982C>T
- NM_001386146.1:c.1850C>T
- NM_001386147.1:c.1895C>T
- NM_001386148.2:c.1925C>T
- NM_001386149.1:c.1850C>T
- NM_001386150.1:c.1850C>T
- NM_001386151.1:c.1751C>T
- NM_001386152.1:c.1982C>T
- NM_001386153.1:c.1850C>T
- NM_001386154.1:c.1850C>T
- NM_001386156.1:c.1775C>T
- NM_001386157.1:c.1652C>T
- NM_001386158.1:c.1553C>T
- NM_001386160.1:c.1895C>T
- NM_001386161.1:c.1874C>T
- NM_001386162.1:c.1850C>T
- NM_001386174.1:c.1988C>T
- NM_001386175.1:c.1964C>T
- NM_001386186.2:c.1925C>T
- NM_001386187.2:c.1901C>T
- NM_020977.5:c.1937C>T
- NP_001120965.1:p.Ser625Phe
- NP_001139.3:p.Ser646Phe
- NP_001341154.1:p.Ser646Phe
- NP_001341157.1:p.Ser646Phe
- NP_001341159.1:p.Ser661Phe
- NP_001341160.1:p.Ser661Phe
- NP_001341161.1:p.Ser646Phe
- NP_001341164.1:p.Ser646Phe
- NP_001341165.1:p.Ser646Phe
- NP_001341166.1:p.Ser661Phe
- NP_001341168.1:p.Ser625Phe
- NP_001341169.1:p.Ser661Phe
- NP_001341170.1:p.Ser661Phe
- NP_001341171.1:p.Ser661Phe
- NP_001341172.1:p.Ser625Phe
- NP_001341173.1:p.Ser625Phe
- NP_001341174.1:p.Ser613Phe
- NP_001341175.1:p.Ser646Phe
- NP_001341178.1:p.Ser617Phe
- NP_001341181.1:p.Ser625Phe
- NP_001341182.1:p.Ser592Phe
- NP_001341183.1:p.Ser625Phe
- NP_001341184.1:p.Ser625Phe
- NP_001341185.1:p.Ser625Phe
- NP_001341186.1:p.Ser592Phe
- NP_001341187.1:p.Ser646Phe
- NP_001341189.1:p.Ser584Phe
- NP_001341190.1:p.Ser632Phe
- NP_001341191.1:p.Ser625Phe
- NP_001341193.1:p.Ser617Phe
- NP_001341194.1:p.Ser646Phe
- NP_001341195.1:p.Ser617Phe
- NP_001341196.1:p.Ser617Phe
- NP_001341197.1:p.Ser613Phe
- NP_001341198.1:p.Ser576Phe
- NP_001341199.1:p.Ser592Phe
- NP_001341200.1:p.Ser584Phe
- NP_001341201.1:p.Ser625Phe
- NP_001341202.1:p.Ser580Phe
- NP_001341203.1:p.Ser617Phe
- NP_001341204.1:p.Ser625Phe
- NP_001341205.1:p.Ser617Phe
- NP_001341206.1:p.Ser551Phe
- NP_001373071.1:p.Ser617Phe
- NP_001373072.1:p.Ser625Phe
- NP_001373073.1:p.Ser661Phe
- NP_001373075.1:p.Ser617Phe
- NP_001373076.1:p.Ser632Phe
- NP_001373077.1:p.Ser642Phe
- NP_001373078.1:p.Ser617Phe
- NP_001373079.1:p.Ser617Phe
- NP_001373080.1:p.Ser584Phe
- NP_001373081.1:p.Ser661Phe
- NP_001373082.1:p.Ser617Phe
- NP_001373083.1:p.Ser617Phe
- NP_001373085.1:p.Ser592Phe
- NP_001373086.1:p.Ser551Phe
- NP_001373087.1:p.Ser518Phe
- NP_001373089.1:p.Ser632Phe
- NP_001373090.1:p.Ser625Phe
- NP_001373091.1:p.Ser617Phe
- NP_001373103.1:p.Ser663Phe
- NP_001373104.1:p.Ser655Phe
- NP_001373115.1:p.Ser642Phe
- NP_001373116.1:p.Ser634Phe
- NP_066187.2:p.Ser646Phe
- LRG_327t1:c.1937C>T
- LRG_327:g.469648C>T
- NC_000004.11:g.114203886C>T
- NM_001148.4:c.1937C>T
This HGVS expression did not pass validation- Protein change:
- S518F
- Links:
- dbSNP: rs786205724
- NCBI 1000 Genomes Browser:
- rs786205724
- Molecular consequence:
- NM_001127493.3:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001148.6:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354225.2:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354228.2:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354230.2:c.1982C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354231.2:c.1982C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354232.2:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354235.2:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354236.2:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354237.2:c.1982C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354239.2:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354240.2:c.1982C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354241.2:c.1982C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354242.2:c.1982C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354243.2:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354244.2:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354245.2:c.1838C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354246.2:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354249.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354252.2:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354253.2:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354254.2:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354255.2:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354256.2:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354257.2:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354258.2:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354260.2:c.1751C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354261.2:c.1895C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354262.2:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354264.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354265.2:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354266.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354267.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354268.2:c.1838C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354269.3:c.1727C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354270.2:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354271.2:c.1751C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354272.2:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354273.2:c.1739C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354274.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354275.2:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354276.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001354277.2:c.1652C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386143.1:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386144.1:c.1982C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386146.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386147.1:c.1895C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386148.2:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386149.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386150.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386151.1:c.1751C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386152.1:c.1982C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386153.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386154.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386156.1:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386157.1:c.1652C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386158.1:c.1553C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386160.1:c.1895C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386161.1:c.1874C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386162.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.1988C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.1964C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386186.2:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386187.2:c.1901C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_020977.5:c.1937C>T - 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 |
|---|---|---|---|---|---|---|
| SCV000223235 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Pathogenic (Apr 26, 2024) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From GeneDx, SCV000223235.16
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
Published functional studies demonstrate variant results in reduced ankyrin-B expression in rat cardiomyoblasts and abnormal localization in mice cardiomyocytes, and adversely affects targeting of downstream binding partners, thus supporting a loss-of-function effect (PMID: 28196901); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28765088, 29163198, 31477143, 29661707, 30415094, 28196901)
| # | 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: Sep 29, 2024