NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) AND not specified

Clinical significance:Benign (Last evaluated: Jun 24, 2013)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000171795.4

Allele description [Variation Report for NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)]

NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)
HGVS:
  • NC_000004.12:g.113358518C>A
  • NG_009006.2:g.545436C>A
  • NM_001127493.2:c.4400-2305C>A
  • NM_001148.6:c.9900C>AMANE SELECT
  • NM_001354225.1:c.4439-2305C>A
  • NM_001354228.1:c.4328-2305C>A
  • NM_001354230.1:c.4406-2305C>A
  • NM_001354231.1:c.4469-2305C>A
  • NM_001354232.1:c.4463-2305C>A
  • NM_001354235.1:c.4424-2305C>A
  • NM_001354236.1:c.4325-2305C>A
  • NM_001354237.1:c.4505-2305C>A
  • NM_001354239.1:c.4397-2305C>A
  • NM_001354240.1:c.4472-2305C>A
  • NM_001354241.1:c.4472-2305C>A
  • NM_001354242.1:c.4469-2305C>A
  • NM_001354243.1:c.4364-2305C>A
  • NM_001354244.1:c.4361-2305C>A
  • NM_001354245.1:c.4265-2305C>A
  • NM_001354246.1:c.4424-2305C>A
  • NM_001354249.1:c.4241-2305C>A
  • NM_001354252.1:c.4397-2305C>A
  • NM_001354253.1:c.4202-2305C>A
  • NM_001354254.1:c.4376-2305C>A
  • NM_001354255.1:c.4364-2305C>A
  • NM_001354256.1:c.4361-2305C>A
  • NM_001354257.1:c.4166-2305C>A
  • NM_001354258.1:c.4328-2305C>A
  • NM_001354260.1:c.4142-2305C>A
  • NM_001354261.1:c.4286-2305C>A
  • NM_001354262.1:c.4265-2305C>A
  • NM_001354264.1:c.4262-2305C>A
  • NM_001354265.1:c.4424-2305C>A
  • NM_001354266.1:c.4241-2305C>A
  • NM_001354267.1:c.4241-2305C>A
  • NM_001354268.1:c.4229-2305C>A
  • NM_001354269.1:c.4214-2305C>A
  • NM_001354270.1:c.4202-2305C>A
  • NM_001354271.1:c.4142-2305C>A
  • NM_001354272.1:c.4298-2305C>A
  • NM_001354273.1:c.4127-2305C>A
  • NM_001354274.1:c.4193-2305C>A
  • NM_001354275.1:c.4265-2305C>A
  • NM_001354276.1:c.4241-2305C>A
  • NM_001354277.1:c.4043-2305C>A
  • NM_001354278.1:c.1955-2305C>A
  • NM_001354279.1:c.1991-2305C>A
  • NM_001354280.1:c.1976-2305C>A
  • NM_001354281.1:c.1955-2305C>A
  • NM_001354282.1:c.1991-2305C>A
  • NM_020977.4:c.4427-2305C>A
  • NP_001139.3:p.Ser3300Arg
  • LRG_327t1:c.9900C>A
  • LRG_327:g.545436C>A
  • NC_000004.11:g.114279674C>A
  • NM_001148.4:c.9900C>A
Protein change:
S3300R
Links:
dbSNP: rs34270799
NCBI 1000 Genomes Browser:
rs34270799
Molecular consequence:
  • NM_001127493.2:c.4400-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4439-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4328-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4406-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4469-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4463-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4424-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4325-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4505-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4397-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4472-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4472-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4469-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4364-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4361-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4265-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4424-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4241-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4397-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4202-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4376-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4364-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4361-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4166-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4328-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4142-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4286-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4265-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4262-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4424-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4241-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4241-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4229-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4214-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4202-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4142-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4298-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4127-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4193-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4265-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4241-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4043-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1955-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1991-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1976-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1955-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1991-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4427-2305C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.9900C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000050803Biesecker Lab/Clinical Genomics Section,National Institutes of Health - ClinSeqcriteria provided, single submitter
Benign
(Jun 24, 2013)
unknownresearch

PubMed (1)
[See all records that cite this PMID]

SCV000306900PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for details.

SCV000050803

Medical sequencing

SCV000050803

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknown39not providednot providednot providednot providedresearch

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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 Biesecker Lab/Clinical Genomics Section,National Institutes of Health - ClinSeq, SCV000050803.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided39not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided39not providednot providednot provided

From PreventionGenetics,PreventionGenetics, SCV000306900.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 12, 2021

Support Center