NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu) AND Cardiac arrhythmia, ankyrin B-related

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000764525.1

Allele description [Variation Report for NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)]

NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)
HGVS:
  • NC_000004.12:g.113353074G>C
  • NG_009006.2:g.539992G>C
  • NM_001127493.2:c.4399+2825G>C
  • NM_001148.6:c.4456G>CMANE SELECT
  • NM_001354225.1:c.4438+2825G>C
  • NM_001354228.1:c.4327+2825G>C
  • NM_001354230.1:c.4405+2825G>C
  • NM_001354231.1:c.4468+2825G>C
  • NM_001354232.1:c.4462+2825G>C
  • NM_001354235.1:c.4423+2825G>C
  • NM_001354236.1:c.4324+2825G>C
  • NM_001354237.1:c.4504+2825G>C
  • NM_001354239.1:c.4396+2825G>C
  • NM_001354240.1:c.4471+2825G>C
  • NM_001354241.1:c.4471+2825G>C
  • NM_001354242.1:c.4468+2825G>C
  • NM_001354243.1:c.4363+2825G>C
  • NM_001354244.1:c.4360+2825G>C
  • NM_001354245.1:c.4264+2825G>C
  • NM_001354246.1:c.4423+2825G>C
  • NM_001354249.1:c.4240+2825G>C
  • NM_001354252.1:c.4396+2825G>C
  • NM_001354253.1:c.4201+2825G>C
  • NM_001354254.1:c.4375+2825G>C
  • NM_001354255.1:c.4363+2825G>C
  • NM_001354256.1:c.4360+2825G>C
  • NM_001354257.1:c.4165+2825G>C
  • NM_001354258.1:c.4327+2825G>C
  • NM_001354260.1:c.4141+2825G>C
  • NM_001354261.1:c.4285+2825G>C
  • NM_001354262.1:c.4264+2825G>C
  • NM_001354264.1:c.4261+2825G>C
  • NM_001354265.1:c.4423+2825G>C
  • NM_001354266.1:c.4240+2825G>C
  • NM_001354267.1:c.4240+2825G>C
  • NM_001354268.1:c.4228+2825G>C
  • NM_001354269.1:c.4213+2825G>C
  • NM_001354270.1:c.4201+2825G>C
  • NM_001354271.1:c.4141+2825G>C
  • NM_001354272.1:c.4297+2825G>C
  • NM_001354273.1:c.4126+2825G>C
  • NM_001354274.1:c.4192+2825G>C
  • NM_001354275.1:c.4264+2825G>C
  • NM_001354276.1:c.4240+2825G>C
  • NM_001354277.1:c.4042+2825G>C
  • NM_001354278.1:c.1954+2825G>C
  • NM_001354279.1:c.1990+2825G>C
  • NM_001354280.1:c.1975+2825G>C
  • NM_001354281.1:c.1954+2825G>C
  • NM_001354282.1:c.1990+2825G>C
  • NM_020977.4:c.4426+2825G>C
  • NP_001139.3:p.Val1486Leu
  • LRG_327t1:c.4456G>C
  • LRG_327:g.539992G>C
  • NC_000004.11:g.114274230G>C
  • NM_001148.4:c.4456G>C
  • NM_001148.5:c.4456G>C
Protein change:
V1486L
Links:
dbSNP: rs149678604
NCBI 1000 Genomes Browser:
rs149678604
Molecular consequence:
  • NM_001127493.2:c.4399+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4438+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4327+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4405+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4468+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4462+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4423+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4324+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4504+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4396+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4471+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4471+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4468+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4363+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4360+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4264+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4423+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4240+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4396+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4201+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4375+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4363+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4360+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4165+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4327+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4141+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4285+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4264+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4261+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4423+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4240+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4240+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4228+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4213+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4201+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4141+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4297+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4126+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4192+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4264+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4240+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4042+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1954+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1990+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1975+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1954+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1990+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4426+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.4456G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiac arrhythmia, ankyrin B-related
Synonyms:
ANKYRIN-B SYNDROME
Identifiers:
MONDO: MONDO:0010958; MedGen: C1970119; Orphanet: 101016; Orphanet: 768; OMIM: 600919

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000895608Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Fulgent Genetics,Fulgent Genetics, SCV000895608.1

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

Last Updated: Apr 12, 2021

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