NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) AND not provided
- Germline classification:
- Benign/Likely benign (4 submissions)
- Last evaluated:
- Aug 1, 2024
- 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:
- RCV001531409.35
Allele description [Variation Report for NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)]
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)
- Gene:
- ANK2:ankyrin 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)
- HGVS:
- NC_000004.12:g.113359013G>A
- NG_009006.2:g.545931G>A
- NM_001127493.3:c.4400-1810G>A
- NM_001148.6:c.10395G>AMANE SELECT
- NM_001354225.2:c.4439-1810G>A
- NM_001354228.2:c.4328-1810G>A
- NM_001354230.2:c.4406-1810G>A
- NM_001354231.2:c.4469-1810G>A
- NM_001354232.2:c.4463-1810G>A
- NM_001354235.2:c.4424-1810G>A
- NM_001354236.2:c.4325-1810G>A
- NM_001354237.2:c.4505-1810G>A
- NM_001354239.2:c.4397-1810G>A
- NM_001354240.2:c.4472-1810G>A
- NM_001354241.2:c.4472-1810G>A
- NM_001354242.2:c.4469-1810G>A
- NM_001354243.2:c.4364-1810G>A
- NM_001354244.2:c.4361-1810G>A
- NM_001354245.2:c.4265-1810G>A
- NM_001354246.2:c.4424-1810G>A
- NM_001354249.2:c.4241-1810G>A
- NM_001354252.2:c.4397-1810G>A
- NM_001354253.2:c.4202-1810G>A
- NM_001354254.2:c.4376-1810G>A
- NM_001354255.2:c.4364-1810G>A
- NM_001354256.2:c.4361-1810G>A
- NM_001354257.2:c.4166-1810G>A
- NM_001354258.2:c.4328-1810G>A
- NM_001354260.2:c.4142-1810G>A
- NM_001354261.2:c.4286-1810G>A
- NM_001354262.2:c.4265-1810G>A
- NM_001354264.2:c.4262-1810G>A
- NM_001354265.2:c.4424-1810G>A
- NM_001354266.2:c.4241-1810G>A
- NM_001354267.2:c.4241-1810G>A
- NM_001354268.2:c.4229-1810G>A
- NM_001354269.3:c.4214-1810G>A
- NM_001354270.2:c.4202-1810G>A
- NM_001354271.2:c.4142-1810G>A
- NM_001354272.2:c.4298-1810G>A
- NM_001354273.2:c.4127-1810G>A
- NM_001354274.2:c.4193-1810G>A
- NM_001354275.2:c.4265-1810G>A
- NM_001354276.2:c.4241-1810G>A
- NM_001354277.2:c.4043-1810G>A
- NM_001354278.2:c.1955-1810G>A
- NM_001354279.2:c.1991-1810G>A
- NM_001354280.2:c.1976-1810G>A
- NM_001354281.2:c.1955-1810G>A
- NM_001354282.2:c.1991-1810G>A
- NM_001386142.1:c.10161G>A
- NM_001386143.1:c.4364-1810G>A
- NM_001386144.1:c.4472-1810G>A
- NM_001386146.1:c.4208-1810G>A
- NM_001386147.1:c.4253-1810G>A
- NM_001386148.2:c.4412-1810G>A
- NM_001386149.1:c.4208-1810G>A
- NM_001386150.1:c.4208-1810G>A
- NM_001386151.1:c.4142-1810G>A
- NM_001386152.1:c.4484-1810G>A
- NM_001386153.1:c.4208-1810G>A
- NM_001386154.1:c.4193-1810G>A
- NM_001386156.1:c.4166-1810G>A
- NM_001386157.1:c.4043-1810G>A
- NM_001386158.1:c.3944-1810G>A
- NM_001386160.1:c.4271-1810G>A
- NM_001386161.1:c.4361-1810G>A
- NM_001386162.1:c.4241-1810G>A
- NM_001386166.1:c.6795G>A
- NM_001386167.1:c.827-1810G>A
- NM_001386174.1:c.10536G>A
- NM_001386175.1:c.10512G>A
- NM_001386186.2:c.4412-1810G>A
- NM_001386187.2:c.4292-1810G>A
- NM_020977.5:c.4427-1810G>A
- NP_001139.3:p.Glu3465=
- NP_001373071.1:p.Glu3387=
- NP_001373095.1:p.Glu2265=
- NP_001373103.1:p.Glu3512=
- NP_001373104.1:p.Glu3504=
- LRG_327t1:c.10395G>A
- LRG_327:g.545931G>A
- NC_000004.11:g.114280169G>A
- NM_001148.4:c.10395G>A
This HGVS expression did not pass validation- Links:
- dbSNP: rs147423696
- NCBI 1000 Genomes Browser:
- rs147423696
- Molecular consequence:
- NM_001127493.3:c.4400-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4439-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4328-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4406-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4469-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4463-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4424-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4325-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4505-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4397-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4472-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4472-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4469-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4364-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4361-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4265-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4424-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4397-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4202-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4376-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4364-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4361-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4166-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4328-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4142-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4286-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4265-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4262-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4424-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4229-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4214-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4202-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4142-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4298-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4127-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4193-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4265-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4043-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1955-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1991-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1976-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1955-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1991-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4364-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4472-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4208-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4253-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4412-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4208-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4208-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4142-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4484-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4208-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4193-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4166-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4043-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3944-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4271-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4361-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.827-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4412-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4292-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4427-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.10395G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386142.1:c.10161G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386166.1:c.6795G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386174.1:c.10536G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386175.1:c.10512G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- Observations:
- 6
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 |
|---|---|---|---|---|---|---|
| SCV001159240 | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024) | Benign (Nov 9, 2023) | germline | clinical testing | |
| SCV001746489 | CeGaT Center for Human Genetics Tuebingen | criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) | Likely benign (Aug 1, 2024) | germline | clinical testing | |
| SCV001757408 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Benign (Mar 3, 2015) | germline | clinical testing | |
| SCV001959306 | Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus
| no assertion criteria provided | Likely benign | 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 |
| not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001159240.3
| # | 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 CeGaT Center for Human Genetics Tuebingen, SCV001746489.19
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 6 | 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 | 6 | not provided | not provided | not provided | |
From GeneDx, SCV001757408.1
| # | 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 Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001959306.1
| # | 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 | |
Last Updated: Oct 8, 2024