NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000170692.4

Allele description [Variation Report for NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)]

NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)
Other names:
p.G1025A:GGC>GCC
HGVS:
  • NC_000004.12:g.113330419G>C
  • NG_009006.2:g.517337G>C
  • NM_001127493.2:c.3047G>C
  • NM_001148.6:c.3074G>CMANE SELECT
  • NM_001354225.1:c.3086G>C
  • NM_001354228.1:c.3074G>C
  • NM_001354230.1:c.3152G>C
  • NM_001354231.1:c.3116G>C
  • NM_001354232.1:c.3110G>C
  • NM_001354235.1:c.3071G>C
  • NM_001354236.1:c.3071G>C
  • NM_001354237.1:c.3152G>C
  • NM_001354239.1:c.3044G>C
  • NM_001354240.1:c.3119G>C
  • NM_001354241.1:c.3119G>C
  • NM_001354242.1:c.3116G>C
  • NM_001354243.1:c.3011G>C
  • NM_001354244.1:c.3008G>C
  • NM_001354245.1:c.3011G>C
  • NM_001354246.1:c.3071G>C
  • NM_001354249.1:c.2987G>C
  • NM_001354252.1:c.3044G>C
  • NM_001354253.1:c.2948G>C
  • NM_001354254.1:c.3023G>C
  • NM_001354255.1:c.3011G>C
  • NM_001354256.1:c.3008G>C
  • NM_001354257.1:c.2912G>C
  • NM_001354258.1:c.3074G>C
  • NM_001354260.1:c.2888G>C
  • NM_001354261.1:c.3032G>C
  • NM_001354262.1:c.3011G>C
  • NM_001354264.1:c.2987G>C
  • NM_001354265.1:c.3071G>C
  • NM_001354266.1:c.2987G>C
  • NM_001354267.1:c.2987G>C
  • NM_001354268.1:c.2975G>C
  • NM_001354269.1:c.2861G>C
  • NM_001354270.1:c.2948G>C
  • NM_001354271.1:c.2888G>C
  • NM_001354272.1:c.3044G>C
  • NM_001354273.1:c.2873G>C
  • NM_001354274.1:c.2972G>C
  • NM_001354275.1:c.3011G>C
  • NM_001354276.1:c.2987G>C
  • NM_001354277.1:c.2789G>C
  • NM_001354278.1:c.701G>C
  • NM_001354279.1:c.737G>C
  • NM_001354280.1:c.701G>C
  • NM_001354281.1:c.701G>C
  • NM_001354282.1:c.737G>C
  • NM_020977.4:c.3074G>C
  • NP_001120965.1:p.Gly1016Ala
  • NP_001139.3:p.Gly1025Ala
  • NP_001341154.1:p.Gly1029Ala
  • NP_001341157.1:p.Gly1025Ala
  • NP_001341159.1:p.Gly1051Ala
  • NP_001341160.1:p.Gly1039Ala
  • NP_001341161.1:p.Gly1037Ala
  • NP_001341164.1:p.Gly1024Ala
  • NP_001341165.1:p.Gly1024Ala
  • NP_001341166.1:p.Gly1051Ala
  • NP_001341168.1:p.Gly1015Ala
  • NP_001341169.1:p.Gly1040Ala
  • NP_001341170.1:p.Gly1040Ala
  • NP_001341171.1:p.Gly1039Ala
  • NP_001341172.1:p.Gly1004Ala
  • NP_001341173.1:p.Gly1003Ala
  • NP_001341174.1:p.Gly1004Ala
  • NP_001341175.1:p.Gly1024Ala
  • NP_001341178.1:p.Gly996Ala
  • NP_001341181.1:p.Gly1015Ala
  • NP_001341182.1:p.Gly983Ala
  • NP_001341183.1:p.Gly1008Ala
  • NP_001341184.1:p.Gly1004Ala
  • NP_001341185.1:p.Gly1003Ala
  • NP_001341186.1:p.Gly971Ala
  • NP_001341187.1:p.Gly1025Ala
  • NP_001341189.1:p.Gly963Ala
  • NP_001341190.1:p.Gly1011Ala
  • NP_001341191.1:p.Gly1004Ala
  • NP_001341193.1:p.Gly996Ala
  • NP_001341194.1:p.Gly1024Ala
  • NP_001341195.1:p.Gly996Ala
  • NP_001341196.1:p.Gly996Ala
  • NP_001341197.1:p.Gly992Ala
  • NP_001341198.1:p.Gly954Ala
  • NP_001341199.1:p.Gly983Ala
  • NP_001341200.1:p.Gly963Ala
  • NP_001341201.1:p.Gly1015Ala
  • NP_001341202.1:p.Gly958Ala
  • NP_001341203.1:p.Gly991Ala
  • NP_001341204.1:p.Gly1004Ala
  • NP_001341205.1:p.Gly996Ala
  • NP_001341206.1:p.Gly930Ala
  • NP_001341207.1:p.Gly234Ala
  • NP_001341208.1:p.Gly246Ala
  • NP_001341209.1:p.Gly234Ala
  • NP_001341210.1:p.Gly234Ala
  • NP_001341211.1:p.Gly246Ala
  • NP_066187.2:p.Gly1025Ala
  • LRG_327t1:c.3074G>C
  • LRG_327:g.517337G>C
  • NC_000004.11:g.114251575G>C
  • NM_001148.4:c.3074G>C
Protein change:
G1003A
Links:
dbSNP: rs773532854
NCBI 1000 Genomes Browser:
rs773532854
Molecular consequence:
  • NM_001127493.2:c.3047G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001148.6:c.3074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354225.1:c.3086G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354228.1:c.3074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354230.1:c.3152G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354231.1:c.3116G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354232.1:c.3110G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354235.1:c.3071G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354236.1:c.3071G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354237.1:c.3152G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354239.1:c.3044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354240.1:c.3119G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354241.1:c.3119G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354242.1:c.3116G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354243.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354244.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354245.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354246.1:c.3071G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354249.1:c.2987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354252.1:c.3044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354253.1:c.2948G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354254.1:c.3023G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354255.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354256.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354257.1:c.2912G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354258.1:c.3074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354260.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354261.1:c.3032G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354262.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354264.1:c.2987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354265.1:c.3071G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354266.1:c.2987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354267.1:c.2987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354268.1:c.2975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354269.1:c.2861G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354270.1:c.2948G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354271.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354272.1:c.3044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354273.1:c.2873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354274.1:c.2972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354275.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354276.1:c.2987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354277.1:c.2789G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354278.1:c.701G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354279.1:c.737G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354280.1:c.701G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354281.1:c.701G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354282.1:c.737G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020977.4:c.3074G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000223245GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 14, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000223245.14

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The G1025A variant of uncertain significance in the ANK2 gene has been previously reported in association with HCM (Lopes et al., 2015), although no clinical details or segregation data was provided. This variant has also been identified both independently and in conjunction with additional cardiogenetic variants in individuals referred for arrhythmia genetic testing at GeneDx; however, thus far, segregation data is limited or absent for these individuals due to the lack of clinical information provided and insufficient participation by informative family members. This substitution occurs at a position that is conserved across species, and in silico analysis predicts G1025A is probably damaging to the protein structure/function. Nevertheless, G1025A is a conservative amino acid substitution, which may not impact secondary protein structure as these residues share similar properties. In addition, G1025A has been observed in 0.027% (18/66,552) of alleles from individuals of Non-Finnish European background. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Apr 12, 2021

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