NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) AND not provided
- Germline classification:
- Benign/Likely benign (4 submissions)
- Last evaluated:
- Apr 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:
- RCV000590762.22
Allele description [Variation Report for NM_001148.6(ANK2):c.3366C>T (p.Asn1122=)]
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=)
- Gene:
- ANK2:ankyrin 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.3366C>T (p.Asn1122=)
- HGVS:
- NC_000004.12:g.113333195C>T
- NG_009006.2:g.520113C>T
- NM_001127493.3:c.3339C>T
- NM_001148.6:c.3366C>TMANE SELECT
- NM_001354225.2:c.3378C>T
- NM_001354228.2:c.3267C>T
- NM_001354230.2:c.3345C>T
- NM_001354231.2:c.3408C>T
- NM_001354232.2:c.3402C>T
- NM_001354235.2:c.3363C>T
- NM_001354236.2:c.3264C>T
- NM_001354237.2:c.3444C>T
- NM_001354239.2:c.3336C>T
- NM_001354240.2:c.3411C>T
- NM_001354241.2:c.3411C>T
- NM_001354242.2:c.3408C>T
- NM_001354243.2:c.3303C>T
- NM_001354244.2:c.3300C>T
- NM_001354245.2:c.3204C>T
- NM_001354246.2:c.3363C>T
- NM_001354249.2:c.3180C>T
- NM_001354252.2:c.3336C>T
- NM_001354253.2:c.3141C>T
- NM_001354254.2:c.3315C>T
- NM_001354255.2:c.3303C>T
- NM_001354256.2:c.3300C>T
- NM_001354257.2:c.3105C>T
- NM_001354258.2:c.3267C>T
- NM_001354260.2:c.3081C>T
- NM_001354261.2:c.3225C>T
- NM_001354262.2:c.3204C>T
- NM_001354264.2:c.3180C>T
- NM_001354265.2:c.3363C>T
- NM_001354266.2:c.3180C>T
- NM_001354267.2:c.3180C>T
- NM_001354268.2:c.3168C>T
- NM_001354269.3:c.3153C>T
- NM_001354270.2:c.3141C>T
- NM_001354271.2:c.3081C>T
- NM_001354272.2:c.3237C>T
- NM_001354273.2:c.3066C>T
- NM_001354274.2:c.3165C>T
- NM_001354275.2:c.3204C>T
- NM_001354276.2:c.3180C>T
- NM_001354277.2:c.2982C>T
- NM_001354278.2:c.894C>T
- NM_001354279.2:c.930C>T
- NM_001354280.2:c.894C>T
- NM_001354281.2:c.894C>T
- NM_001354282.2:c.930C>T
- NM_001386142.1:c.3165C>T
- NM_001386143.1:c.3303C>T
- NM_001386144.1:c.3411C>T
- NM_001386146.1:c.3180C>T
- NM_001386147.1:c.3225C>T
- NM_001386148.2:c.3351C>T
- NM_001386149.1:c.3180C>T
- NM_001386150.1:c.3180C>T
- NM_001386151.1:c.3081C>T
- NM_001386152.1:c.3423C>T
- NM_001386153.1:c.3180C>T
- NM_001386154.1:c.3165C>T
- NM_001386156.1:c.3105C>T
- NM_001386157.1:c.2982C>T
- NM_001386158.1:c.2883C>T
- NM_001386160.1:c.3210C>T
- NM_001386161.1:c.3300C>T
- NM_001386162.1:c.3180C>T
- NM_001386174.1:c.3507C>T
- NM_001386175.1:c.3483C>T
- NM_001386186.2:c.3351C>T
- NM_001386187.2:c.3231C>T
- NM_020977.5:c.3366C>T
- NP_001120965.1:p.Asn1113=
- NP_001139.3:p.Asn1122=
- NP_001341154.1:p.Asn1126=
- NP_001341157.1:p.Asn1089=
- NP_001341159.1:p.Asn1115=
- NP_001341160.1:p.Asn1136=
- NP_001341161.1:p.Asn1134=
- NP_001341164.1:p.Asn1121=
- NP_001341165.1:p.Asn1088=
- NP_001341166.1:p.Asn1148=
- NP_001341168.1:p.Asn1112=
- NP_001341169.1:p.Asn1137=
- NP_001341170.1:p.Asn1137=
- NP_001341171.1:p.Asn1136=
- NP_001341172.1:p.Asn1101=
- NP_001341173.1:p.Asn1100=
- NP_001341174.1:p.Asn1068=
- NP_001341175.1:p.Asn1121=
- NP_001341178.1:p.Asn1060=
- NP_001341181.1:p.Asn1112=
- NP_001341182.1:p.Asn1047=
- NP_001341183.1:p.Asn1105=
- NP_001341184.1:p.Asn1101=
- NP_001341185.1:p.Asn1100=
- NP_001341186.1:p.Asn1035=
- NP_001341187.1:p.Asn1089=
- NP_001341189.1:p.Asn1027=
- NP_001341190.1:p.Asn1075=
- NP_001341191.1:p.Asn1068=
- NP_001341193.1:p.Asn1060=
- NP_001341194.1:p.Asn1121=
- NP_001341195.1:p.Asn1060=
- NP_001341196.1:p.Asn1060=
- NP_001341197.1:p.Asn1056=
- NP_001341198.1:p.Asn1051=
- NP_001341199.1:p.Asn1047=
- NP_001341200.1:p.Asn1027=
- NP_001341201.1:p.Asn1079=
- NP_001341202.1:p.Asn1022=
- NP_001341203.1:p.Asn1055=
- NP_001341204.1:p.Asn1068=
- NP_001341205.1:p.Asn1060=
- NP_001341206.1:p.Asn994=
- NP_001341207.1:p.Asn298=
- NP_001341208.1:p.Asn310=
- NP_001341209.1:p.Asn298=
- NP_001341210.1:p.Asn298=
- NP_001341211.1:p.Asn310=
- NP_001373071.1:p.Asn1055=
- NP_001373072.1:p.Asn1101=
- NP_001373073.1:p.Asn1137=
- NP_001373075.1:p.Asn1060=
- NP_001373076.1:p.Asn1075=
- NP_001373077.1:p.Asn1117=
- NP_001373078.1:p.Asn1060=
- NP_001373079.1:p.Asn1060=
- NP_001373080.1:p.Asn1027=
- NP_001373081.1:p.Asn1141=
- NP_001373082.1:p.Asn1060=
- NP_001373083.1:p.Asn1055=
- NP_001373085.1:p.Asn1035=
- NP_001373086.1:p.Asn994=
- NP_001373087.1:p.Asn961=
- NP_001373089.1:p.Asn1070=
- NP_001373090.1:p.Asn1100=
- NP_001373091.1:p.Asn1060=
- NP_001373103.1:p.Asn1169=
- NP_001373104.1:p.Asn1161=
- NP_001373115.1:p.Asn1117=
- NP_001373116.1:p.Asn1077=
- NP_066187.2:p.Asn1122=
- LRG_327t1:c.3366C>T
- LRG_327:g.520113C>T
- NC_000004.11:g.114254351C>T
- NM_001148.4:c.3366C>T
- p.Asn1122Asn
This HGVS expression did not pass validation- Links:
- dbSNP: rs114896457
- NCBI 1000 Genomes Browser:
- rs114896457
- Molecular consequence:
- NM_001127493.3:c.3339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001148.6:c.3366C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354225.2:c.3378C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354228.2:c.3267C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354230.2:c.3345C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354231.2:c.3408C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354232.2:c.3402C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354235.2:c.3363C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354236.2:c.3264C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354237.2:c.3444C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354239.2:c.3336C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354240.2:c.3411C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354241.2:c.3411C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354242.2:c.3408C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354243.2:c.3303C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354244.2:c.3300C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354245.2:c.3204C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354246.2:c.3363C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354249.2:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354252.2:c.3336C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354253.2:c.3141C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354254.2:c.3315C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354255.2:c.3303C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354256.2:c.3300C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354257.2:c.3105C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354258.2:c.3267C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354260.2:c.3081C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354261.2:c.3225C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354262.2:c.3204C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354264.2:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354265.2:c.3363C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354266.2:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354267.2:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354268.2:c.3168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354269.3:c.3153C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354270.2:c.3141C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354271.2:c.3081C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354272.2:c.3237C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354273.2:c.3066C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354274.2:c.3165C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354275.2:c.3204C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354276.2:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354277.2:c.2982C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354278.2:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354279.2:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354280.2:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354281.2:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354282.2:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386142.1:c.3165C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386143.1:c.3303C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386144.1:c.3411C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386146.1:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386147.1:c.3225C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386148.2:c.3351C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386149.1:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386150.1:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386151.1:c.3081C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386152.1:c.3423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386153.1:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386154.1:c.3165C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386156.1:c.3105C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386157.1:c.2982C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386158.1:c.2883C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386160.1:c.3210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386161.1:c.3300C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386162.1:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386174.1:c.3507C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386175.1:c.3483C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386186.2:c.3351C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386187.2:c.3231C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_020977.5:c.3366C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- Observations:
- 2
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 |
|---|---|---|---|---|---|---|
| SCV000697735 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Benign (Apr 4, 2016) | germline | clinical testing | LabCorp Variant Classification Summary - May 2015.docx, |
| SCV000885007 | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process) | Benign (Dec 12, 2017) | germline | clinical testing | |
| SCV001852107 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Benign (Mar 3, 2015) | germline | clinical testing | |
| SCV004148726 | CeGaT Center for Human Genetics Tuebingen | criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) | Likely benign (Apr 1, 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 |
| not provided | germline | yes | 2 | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697735.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
Variant Summary: The variant of interest causes a synonymous change involving a non-conserved nucleotide with 5/5 in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 169/121394 (1/718), which significantly exceeds the predicted maximum expected allele frequency for a pathogenic ANK2 variant of 1/100000. The variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories, to our knowledge. Therefore, taking into consideration the nature of this variant being a synonymous change and the high frequency in controls, it is classified as Benign.
| # | 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 | |
From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885007.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
| # | 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 | |
From GeneDx, SCV001852107.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
| # | 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, SCV004148726.9
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 2 | not provided | not provided | clinical testing | not provided |
Description
ANK2: BP4, BP7, 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 | 2 | not provided | not provided | not provided | |
Last Updated: Oct 8, 2024