NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 24, 2022
- 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:
- RCV002348392.2
Allele description [Variation Report for NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys)]
NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys)
- Genes:
- LOC126807136:MED14-independent group 3 enhancer GRCh37_chr4:114274931-114276130 [Gene]
ANK2:ankyrin 2 [Gene - OMIM - HGNC] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys)
- HGVS:
- NC_000004.12:g.113354355C>T
- NG_009006.2:g.541273C>T
- NM_001127493.3:c.4399+4106C>T
- NM_001148.6:c.5737C>TMANE SELECT
- NM_001354225.2:c.4438+4106C>T
- NM_001354228.2:c.4327+4106C>T
- NM_001354230.2:c.4405+4106C>T
- NM_001354231.2:c.4468+4106C>T
- NM_001354232.2:c.4462+4106C>T
- NM_001354235.2:c.4423+4106C>T
- NM_001354236.2:c.4324+4106C>T
- NM_001354237.2:c.4504+4106C>T
- NM_001354239.2:c.4396+4106C>T
- NM_001354240.2:c.4471+4106C>T
- NM_001354241.2:c.4471+4106C>T
- NM_001354242.2:c.4468+4106C>T
- NM_001354243.2:c.4363+4106C>T
- NM_001354244.2:c.4360+4106C>T
- NM_001354245.2:c.4264+4106C>T
- NM_001354246.2:c.4423+4106C>T
- NM_001354249.2:c.4240+4106C>T
- NM_001354252.2:c.4396+4106C>T
- NM_001354253.2:c.4201+4106C>T
- NM_001354254.2:c.4375+4106C>T
- NM_001354255.2:c.4363+4106C>T
- NM_001354256.2:c.4360+4106C>T
- NM_001354257.2:c.4165+4106C>T
- NM_001354258.2:c.4327+4106C>T
- NM_001354260.2:c.4141+4106C>T
- NM_001354261.2:c.4285+4106C>T
- NM_001354262.2:c.4264+4106C>T
- NM_001354264.2:c.4261+4106C>T
- NM_001354265.2:c.4423+4106C>T
- NM_001354266.2:c.4240+4106C>T
- NM_001354267.2:c.4240+4106C>T
- NM_001354268.2:c.4228+4106C>T
- NM_001354269.3:c.4213+4106C>T
- NM_001354270.2:c.4201+4106C>T
- NM_001354271.2:c.4141+4106C>T
- NM_001354272.2:c.4297+4106C>T
- NM_001354273.2:c.4126+4106C>T
- NM_001354274.2:c.4192+4106C>T
- NM_001354275.2:c.4264+4106C>T
- NM_001354276.2:c.4240+4106C>T
- NM_001354277.2:c.4042+4106C>T
- NM_001354278.2:c.1954+4106C>T
- NM_001354279.2:c.1990+4106C>T
- NM_001354280.2:c.1975+4106C>T
- NM_001354281.2:c.1954+4106C>T
- NM_001354282.2:c.1990+4106C>T
- NM_001386142.1:c.5503C>T
- NM_001386143.1:c.4363+4106C>T
- NM_001386144.1:c.4471+4106C>T
- NM_001386146.1:c.4207+4106C>T
- NM_001386147.1:c.4252+4106C>T
- NM_001386148.2:c.4411+4106C>T
- NM_001386149.1:c.4207+4106C>T
- NM_001386150.1:c.4207+4106C>T
- NM_001386151.1:c.4141+4106C>T
- NM_001386152.1:c.4483+4106C>T
- NM_001386153.1:c.4207+4106C>T
- NM_001386154.1:c.4192+4106C>T
- NM_001386156.1:c.4165+4106C>T
- NM_001386157.1:c.4042+4106C>T
- NM_001386158.1:c.3943+4106C>T
- NM_001386160.1:c.4270+4106C>T
- NM_001386161.1:c.4360+4106C>T
- NM_001386162.1:c.4240+4106C>T
- NM_001386166.1:c.2137C>T
- NM_001386167.1:c.826+4106C>T
- NM_001386174.1:c.5878C>T
- NM_001386175.1:c.5854C>T
- NM_001386186.2:c.4411+4106C>T
- NM_001386187.2:c.4291+4106C>T
- NM_020977.5:c.4426+4106C>T
- NP_001139.3:p.Arg1913Cys
- NP_001373071.1:p.Arg1835Cys
- NP_001373095.1:p.Arg713Cys
- NP_001373103.1:p.Arg1960Cys
- NP_001373104.1:p.Arg1952Cys
- LRG_327t1:c.5737C>T
- LRG_327:g.541273C>T
- NC_000004.11:g.114275511C>T
- NM_001148.4:c.5737C>T
This HGVS expression did not pass validation- Protein change:
- R1835C
- Links:
- dbSNP: rs147547363
- NCBI 1000 Genomes Browser:
- rs147547363
- Molecular consequence:
- NM_001127493.3:c.4399+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4438+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4327+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4405+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4468+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4462+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4423+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4324+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4504+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4396+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4471+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4471+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4468+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4363+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4360+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4264+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4423+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4240+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4396+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4201+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4375+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4363+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4360+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4165+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4327+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4141+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4285+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4264+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4261+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4423+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4240+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4240+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4228+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4213+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4201+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4141+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4297+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4126+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4192+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4264+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4240+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4042+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1954+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1990+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1975+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1954+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1990+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4363+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4471+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4207+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4252+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4411+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4207+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4207+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4141+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4483+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4207+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4192+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4165+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4042+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3943+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4270+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4360+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4240+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.826+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4411+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4291+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4426+4106C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.5737C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.5503C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.2137C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.5878C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.5854C>T - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV002650236 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Mar 24, 2022) | 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, SCV002650236.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.R1913C variant (also known as c.5737C>T), located in coding exon 38 of the ANK2 gene, results from a C to T substitution at nucleotide position 5737. The arginine at codon 1913 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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: Oct 8, 2024