NM_001148.6(ANK2):c.2127T>C (p.Asn709=) AND not provided
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Dec 19, 2016
- 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:
- RCV000586523.3
Allele description [Variation Report for NM_001148.6(ANK2):c.2127T>C (p.Asn709=)]
NM_001148.6(ANK2):c.2127T>C (p.Asn709=)
- Gene:
- ANK2:ankyrin 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.2127T>C (p.Asn709=)
- HGVS:
- NC_000004.12:g.113287652T>C
- NG_009006.2:g.474570T>C
- NM_001127493.3:c.2064T>C
- NM_001148.6:c.2127T>CMANE SELECT
- NM_001354225.2:c.2127T>C
- NM_001354228.2:c.2127T>C
- NM_001354230.2:c.2172T>C
- NM_001354231.2:c.2172T>C
- NM_001354232.2:c.2127T>C
- NM_001354235.2:c.2127T>C
- NM_001354236.2:c.2127T>C
- NM_001354237.2:c.2172T>C
- NM_001354239.2:c.2064T>C
- NM_001354240.2:c.2172T>C
- NM_001354241.2:c.2172T>C
- NM_001354242.2:c.2172T>C
- NM_001354243.2:c.2064T>C
- NM_001354244.2:c.2064T>C
- NM_001354245.2:c.2028T>C
- NM_001354246.2:c.2127T>C
- NM_001354249.2:c.2040T>C
- NM_001354252.2:c.2064T>C
- NM_001354253.2:c.1965T>C
- NM_001354254.2:c.2064T>C
- NM_001354255.2:c.2064T>C
- NM_001354256.2:c.2064T>C
- NM_001354257.2:c.1965T>C
- NM_001354258.2:c.2127T>C
- NM_001354260.2:c.1941T>C
- NM_001354261.2:c.2085T>C
- NM_001354262.2:c.2064T>C
- NM_001354264.2:c.2040T>C
- NM_001354265.2:c.2127T>C
- NM_001354266.2:c.2040T>C
- NM_001354267.2:c.2040T>C
- NM_001354268.2:c.2028T>C
- NM_001354269.3:c.1917T>C
- NM_001354270.2:c.1965T>C
- NM_001354271.2:c.1941T>C
- NM_001354272.2:c.2064T>C
- NM_001354273.2:c.1929T>C
- NM_001354274.2:c.2040T>C
- NM_001354275.2:c.2064T>C
- NM_001354276.2:c.2040T>C
- NM_001354277.2:c.1842T>C
- NM_001386142.1:c.2040T>C
- NM_001386143.1:c.2064T>C
- NM_001386144.1:c.2172T>C
- NM_001386146.1:c.2040T>C
- NM_001386147.1:c.2085T>C
- NM_001386148.2:c.2115T>C
- NM_001386149.1:c.2040T>C
- NM_001386150.1:c.2040T>C
- NM_001386151.1:c.1941T>C
- NM_001386152.1:c.2172T>C
- NM_001386153.1:c.2040T>C
- NM_001386154.1:c.2040T>C
- NM_001386156.1:c.1965T>C
- NM_001386157.1:c.1842T>C
- NM_001386158.1:c.1743T>C
- NM_001386160.1:c.2085T>C
- NM_001386161.1:c.2064T>C
- NM_001386162.1:c.2040T>C
- NM_001386174.1:c.2178T>C
- NM_001386175.1:c.2154T>C
- NM_001386186.2:c.2115T>C
- NM_001386187.2:c.2091T>C
- NM_020977.5:c.2127T>C
- NP_001120965.1:p.Asn688=
- NP_001139.3:p.Asn709=
- NP_001341154.1:p.Asn709=
- NP_001341157.1:p.Asn709=
- NP_001341159.1:p.Asn724=
- NP_001341160.1:p.Asn724=
- NP_001341161.1:p.Asn709=
- NP_001341164.1:p.Asn709=
- NP_001341165.1:p.Asn709=
- NP_001341166.1:p.Asn724=
- NP_001341168.1:p.Asn688=
- NP_001341169.1:p.Asn724=
- NP_001341170.1:p.Asn724=
- NP_001341171.1:p.Asn724=
- NP_001341172.1:p.Asn688=
- NP_001341173.1:p.Asn688=
- NP_001341174.1:p.Asn676=
- NP_001341175.1:p.Asn709=
- NP_001341178.1:p.Asn680=
- NP_001341181.1:p.Asn688=
- NP_001341182.1:p.Asn655=
- NP_001341183.1:p.Asn688=
- NP_001341184.1:p.Asn688=
- NP_001341185.1:p.Asn688=
- NP_001341186.1:p.Asn655=
- NP_001341187.1:p.Asn709=
- NP_001341189.1:p.Asn647=
- NP_001341190.1:p.Asn695=
- NP_001341191.1:p.Asn688=
- NP_001341193.1:p.Asn680=
- NP_001341194.1:p.Asn709=
- NP_001341195.1:p.Asn680=
- NP_001341196.1:p.Asn680=
- NP_001341197.1:p.Asn676=
- NP_001341198.1:p.Asn639=
- NP_001341199.1:p.Asn655=
- NP_001341200.1:p.Asn647=
- NP_001341201.1:p.Asn688=
- NP_001341202.1:p.Asn643=
- NP_001341203.1:p.Asn680=
- NP_001341204.1:p.Asn688=
- NP_001341205.1:p.Asn680=
- NP_001341206.1:p.Asn614=
- NP_001373071.1:p.Asn680=
- NP_001373072.1:p.Asn688=
- NP_001373073.1:p.Asn724=
- NP_001373075.1:p.Asn680=
- NP_001373076.1:p.Asn695=
- NP_001373077.1:p.Asn705=
- NP_001373078.1:p.Asn680=
- NP_001373079.1:p.Asn680=
- NP_001373080.1:p.Asn647=
- NP_001373081.1:p.Asn724=
- NP_001373082.1:p.Asn680=
- NP_001373083.1:p.Asn680=
- NP_001373085.1:p.Asn655=
- NP_001373086.1:p.Asn614=
- NP_001373087.1:p.Asn581=
- NP_001373089.1:p.Asn695=
- NP_001373090.1:p.Asn688=
- NP_001373091.1:p.Asn680=
- NP_001373103.1:p.Asn726=
- NP_001373104.1:p.Asn718=
- NP_001373115.1:p.Asn705=
- NP_001373116.1:p.Asn697=
- NP_066187.2:p.Asn709=
- LRG_327t1:c.2127T>C
- LRG_327:g.474570T>C
- NC_000004.11:g.114208808T>C
- NM_001148.4:c.2127T>C
This HGVS expression did not pass validation- Links:
- dbSNP: rs113454484
- NCBI 1000 Genomes Browser:
- rs113454484
- Molecular consequence:
- NM_001127493.3:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001148.6:c.2127T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354225.2:c.2127T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354228.2:c.2127T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354230.2:c.2172T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354231.2:c.2172T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354232.2:c.2127T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354235.2:c.2127T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354236.2:c.2127T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354237.2:c.2172T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354239.2:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354240.2:c.2172T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354241.2:c.2172T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354242.2:c.2172T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354243.2:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354244.2:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354245.2:c.2028T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354246.2:c.2127T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354249.2:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354252.2:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354253.2:c.1965T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354254.2:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354255.2:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354256.2:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354257.2:c.1965T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354258.2:c.2127T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354260.2:c.1941T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354261.2:c.2085T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354262.2:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354264.2:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354265.2:c.2127T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354266.2:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354267.2:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354268.2:c.2028T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354269.3:c.1917T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354270.2:c.1965T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354271.2:c.1941T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354272.2:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354273.2:c.1929T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354274.2:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354275.2:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354276.2:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001354277.2:c.1842T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386142.1:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386143.1:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386144.1:c.2172T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386146.1:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386147.1:c.2085T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386148.2:c.2115T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386149.1:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386150.1:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386151.1:c.1941T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386152.1:c.2172T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386153.1:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386154.1:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386156.1:c.1965T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386157.1:c.1842T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386158.1:c.1743T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386160.1:c.2085T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386161.1:c.2064T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386162.1:c.2040T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386174.1:c.2178T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386175.1:c.2154T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386186.2:c.2115T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386187.2:c.2091T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_020977.5:c.2127T>C - synonymous variant - [Sequence Ontology: SO:0001819]
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 |
|---|---|---|---|---|---|---|
| SCV000697730 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Benign (Dec 19, 2016) | germline | clinical testing | LabCorp Variant Classification Summary - May 2015.docx, |
| SCV001944507 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Benign (Mar 3, 2015) | 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 |
| not provided | germline | unknown | not provided | 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, SCV000697730.1
| # | 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 ANK2 c.2127T>C (p.Asn709Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 2/5 splice prediction tools predict that this variant may weaken a cryptic 5' splicing donor site, while 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SC35. However, these predictions have yet to be confirmed by functional studies. This variant was found in 8/120974 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0007703 (8/10386). This frequency is about 77 times the estimated maximal expected allele frequency of a pathogenic ANK2 variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant 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 GeneDx, SCV001944507.2
| # | 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