NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys) AND Cardiac arrhythmia, ankyrin B-related

Clinical significance:Benign (Last evaluated: Dec 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001151106.1

Allele description [Variation Report for NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)]

NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)
Other names:
p.R379C:CGT>TGT
HGVS:
  • NC_000004.12:g.113255879C>T
  • NG_009006.2:g.442797C>T
  • NM_001127493.2:c.1072C>T
  • NM_001148.6:c.1135C>TMANE SELECT
  • NM_001354225.1:c.1135C>T
  • NM_001354228.1:c.1135C>T
  • NM_001354230.1:c.1180C>T
  • NM_001354231.1:c.1180C>T
  • NM_001354232.1:c.1135C>T
  • NM_001354235.1:c.1135C>T
  • NM_001354236.1:c.1135C>T
  • NM_001354237.1:c.1180C>T
  • NM_001354239.1:c.1072C>T
  • NM_001354240.1:c.1180C>T
  • NM_001354241.1:c.1180C>T
  • NM_001354242.1:c.1180C>T
  • NM_001354243.1:c.1072C>T
  • NM_001354244.1:c.1072C>T
  • NM_001354245.1:c.1135C>T
  • NM_001354246.1:c.1135C>T
  • NM_001354249.1:c.1048C>T
  • NM_001354252.1:c.1072C>T
  • NM_001354253.1:c.1072C>T
  • NM_001354254.1:c.1072C>T
  • NM_001354255.1:c.1072C>T
  • NM_001354256.1:c.1072C>T
  • NM_001354257.1:c.1072C>T
  • NM_001354258.1:c.1135C>T
  • NM_001354260.1:c.1048C>T
  • NM_001354261.1:c.1093C>T
  • NM_001354262.1:c.1072C>T
  • NM_001354264.1:c.1048C>T
  • NM_001354265.1:c.1135C>T
  • NM_001354266.1:c.1048C>T
  • NM_001354267.1:c.1048C>T
  • NM_001354268.1:c.1135C>T
  • NM_001354269.1:c.1123C>T
  • NM_001354270.1:c.1072C>T
  • NM_001354271.1:c.1048C>T
  • NM_001354272.1:c.1072C>T
  • NM_001354273.1:c.1135C>T
  • NM_001354274.1:c.1048C>T
  • NM_001354275.1:c.1072C>T
  • NM_001354276.1:c.1048C>T
  • NM_001354277.1:c.1048C>T
  • NM_020977.4:c.1135C>T
  • NP_001120965.1:p.Arg358Cys
  • NP_001139.3:p.Arg379Cys
  • NP_001341154.1:p.Arg379Cys
  • NP_001341157.1:p.Arg379Cys
  • NP_001341159.1:p.Arg394Cys
  • NP_001341160.1:p.Arg394Cys
  • NP_001341161.1:p.Arg379Cys
  • NP_001341164.1:p.Arg379Cys
  • NP_001341165.1:p.Arg379Cys
  • NP_001341166.1:p.Arg394Cys
  • NP_001341168.1:p.Arg358Cys
  • NP_001341169.1:p.Arg394Cys
  • NP_001341170.1:p.Arg394Cys
  • NP_001341171.1:p.Arg394Cys
  • NP_001341172.1:p.Arg358Cys
  • NP_001341173.1:p.Arg358Cys
  • NP_001341174.1:p.Arg379Cys
  • NP_001341175.1:p.Arg379Cys
  • NP_001341178.1:p.Arg350Cys
  • NP_001341181.1:p.Arg358Cys
  • NP_001341182.1:p.Arg358Cys
  • NP_001341183.1:p.Arg358Cys
  • NP_001341184.1:p.Arg358Cys
  • NP_001341185.1:p.Arg358Cys
  • NP_001341186.1:p.Arg358Cys
  • NP_001341187.1:p.Arg379Cys
  • NP_001341189.1:p.Arg350Cys
  • NP_001341190.1:p.Arg365Cys
  • NP_001341191.1:p.Arg358Cys
  • NP_001341193.1:p.Arg350Cys
  • NP_001341194.1:p.Arg379Cys
  • NP_001341195.1:p.Arg350Cys
  • NP_001341196.1:p.Arg350Cys
  • NP_001341197.1:p.Arg379Cys
  • NP_001341198.1:p.Arg375Cys
  • NP_001341199.1:p.Arg358Cys
  • NP_001341200.1:p.Arg350Cys
  • NP_001341201.1:p.Arg358Cys
  • NP_001341202.1:p.Arg379Cys
  • NP_001341203.1:p.Arg350Cys
  • NP_001341204.1:p.Arg358Cys
  • NP_001341205.1:p.Arg350Cys
  • NP_001341206.1:p.Arg350Cys
  • NP_066187.2:p.Arg379Cys
  • LRG_327t1:c.1135C>T
  • LRG_327:g.442797C>T
  • NC_000004.11:g.114177035C>T
  • NM_001148.4:c.1135C>T
Protein change:
R350C
Links:
dbSNP: rs143043717
NCBI 1000 Genomes Browser:
rs143043717
Molecular consequence:
  • NM_001127493.2:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001148.6:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354225.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354228.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354230.1:c.1180C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354231.1:c.1180C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354232.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354235.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354236.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354237.1:c.1180C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354239.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354240.1:c.1180C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354241.1:c.1180C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354242.1:c.1180C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354243.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354244.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354245.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354246.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354249.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354252.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354253.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354254.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354255.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354256.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354257.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354258.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354260.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354261.1:c.1093C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354262.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354264.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354265.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354266.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354267.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354268.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354269.1:c.1123C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354270.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354271.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354272.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354273.1:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354274.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354275.1:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354276.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354277.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020977.4:c.1135C>T - 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
SCV001312209Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Dec 4, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

Al-Shamsi A, Hertecant JL, Souid AK, Al-Jasmi FA.

Orphanet J Rare Dis. 2016 Jul 8;11(1):94. doi: 10.1186/s13023-016-0474-3.

PubMed [citation]
PMID:
27391121
PMCID:
PMC4939014

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001312209.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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