NM_001148.6(ANK2):c.6912T>C (p.Thr2304=) AND not specified
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Apr 9, 2025
- 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:
- RCV001844096.10
Allele description [Variation Report for NM_001148.6(ANK2):c.6912T>C (p.Thr2304=)]
NM_001148.6(ANK2):c.6912T>C (p.Thr2304=)
- Genes:
- LOC126807137:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 [Gene]
ANK2:ankyrin 2 [Gene - OMIM - HGNC] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.6912T>C (p.Thr2304=)
- HGVS:
- NC_000004.12:g.113355530T>C
- NG_009006.2:g.542448T>C
- NM_001127493.3:c.4399+5281T>C
- NM_001148.5:c.6912T>C
- NM_001148.6:c.6912T>CMANE SELECT
- NM_001354225.2:c.4438+5281T>C
- NM_001354228.2:c.4327+5281T>C
- NM_001354230.2:c.4405+5281T>C
- NM_001354231.2:c.4468+5281T>C
- NM_001354232.2:c.4462+5281T>C
- NM_001354235.2:c.4423+5281T>C
- NM_001354236.2:c.4324+5281T>C
- NM_001354237.2:c.4504+5281T>C
- NM_001354239.2:c.4396+5281T>C
- NM_001354240.2:c.4471+5281T>C
- NM_001354241.2:c.4471+5281T>C
- NM_001354242.2:c.4468+5281T>C
- NM_001354243.2:c.4363+5281T>C
- NM_001354244.2:c.4360+5281T>C
- NM_001354245.2:c.4264+5281T>C
- NM_001354246.2:c.4423+5281T>C
- NM_001354249.2:c.4240+5281T>C
- NM_001354252.2:c.4396+5281T>C
- NM_001354253.2:c.4201+5281T>C
- NM_001354254.2:c.4375+5281T>C
- NM_001354255.2:c.4363+5281T>C
- NM_001354256.2:c.4360+5281T>C
- NM_001354257.2:c.4165+5281T>C
- NM_001354258.2:c.4327+5281T>C
- NM_001354260.2:c.4141+5281T>C
- NM_001354261.2:c.4285+5281T>C
- NM_001354262.2:c.4264+5281T>C
- NM_001354264.2:c.4261+5281T>C
- NM_001354265.2:c.4423+5281T>C
- NM_001354266.2:c.4240+5281T>C
- NM_001354267.2:c.4240+5281T>C
- NM_001354268.2:c.4228+5281T>C
- NM_001354269.3:c.4213+5281T>C
- NM_001354270.2:c.4201+5281T>C
- NM_001354271.2:c.4141+5281T>C
- NM_001354272.2:c.4297+5281T>C
- NM_001354273.2:c.4126+5281T>C
- NM_001354274.2:c.4192+5281T>C
- NM_001354275.2:c.4264+5281T>C
- NM_001354276.2:c.4240+5281T>C
- NM_001354277.2:c.4042+5281T>C
- NM_001354278.2:c.1954+5281T>C
- NM_001354279.2:c.1990+5281T>C
- NM_001354280.2:c.1975+5281T>C
- NM_001354281.2:c.1954+5281T>C
- NM_001354282.2:c.1990+5281T>C
- NM_001386142.1:c.6678T>C
- NM_001386143.1:c.4363+5281T>C
- NM_001386144.1:c.4471+5281T>C
- NM_001386146.1:c.4207+5281T>C
- NM_001386147.1:c.4252+5281T>C
- NM_001386148.2:c.4411+5281T>C
- NM_001386149.1:c.4207+5281T>C
- NM_001386150.1:c.4207+5281T>C
- NM_001386151.1:c.4141+5281T>C
- NM_001386152.1:c.4483+5281T>C
- NM_001386153.1:c.4207+5281T>C
- NM_001386154.1:c.4192+5281T>C
- NM_001386156.1:c.4165+5281T>C
- NM_001386157.1:c.4042+5281T>C
- NM_001386158.1:c.3943+5281T>C
- NM_001386160.1:c.4270+5281T>C
- NM_001386161.1:c.4360+5281T>C
- NM_001386162.1:c.4240+5281T>C
- NM_001386166.1:c.3312T>C
- NM_001386167.1:c.826+5281T>C
- NM_001386174.1:c.7053T>C
- NM_001386175.1:c.7029T>C
- NM_001386186.2:c.4411+5281T>C
- NM_001386187.2:c.4291+5281T>C
- NM_020977.5:c.4426+5281T>C
- NP_001139.3:p.Thr2304=
- NP_001373071.1:p.Thr2226=
- NP_001373095.1:p.Thr1104=
- NP_001373103.1:p.Thr2351=
- NP_001373104.1:p.Thr2343=
- LRG_327t1:c.6912T>C
- LRG_327:g.542448T>C
- NC_000004.11:g.114276686T>C
- NM_001148.4:c.6912T>C
This HGVS expression did not pass validation- Links:
- dbSNP: rs190680846
- NCBI 1000 Genomes Browser:
- rs190680846
- Molecular consequence:
- NM_001127493.3:c.4399+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4438+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4327+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4405+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4468+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4462+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4423+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4324+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4504+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4396+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4471+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4471+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4468+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4363+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4360+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4264+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4423+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4240+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4396+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4201+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4375+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4363+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4360+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4165+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4327+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4141+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4285+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4264+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4261+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4423+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4240+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4240+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4228+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4213+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4201+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4141+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4297+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4126+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4192+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4264+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4240+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4042+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1954+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1990+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1975+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1954+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1990+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4363+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4471+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4207+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4252+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4411+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4207+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4207+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4141+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4483+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4207+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4192+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4165+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4042+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3943+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4270+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4360+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4240+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.826+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4411+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4291+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4426+5281T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.6912T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386142.1:c.6678T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386166.1:c.3312T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386174.1:c.7053T>C - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001386175.1:c.7029T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV002103608 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Benign (Feb 19, 2022) | germline | clinical testing | |
| SCV006066574 | Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign (Apr 9, 2025) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | no | 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 |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
PubMed [citation]
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002103608.1
| # | 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 Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV006066574.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | no | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: May 25, 2025