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NM_001148.6(ANK2):c.2127T>C (p.Asn709=) AND Cardiac arrhythmia, ankyrin-B-related

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 5, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002253340.1

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
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)

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002525004Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Dec 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002525004.1

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

Last Updated: Sep 29, 2024