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

Clinical significance:Uncertain significance (Last evaluated: Mar 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000621420.1

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]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000737961Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 12, 2019)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM.

Heart. 2015 Feb;101(4):294-301. doi: 10.1136/heartjnl-2014-306387. Epub 2014 Oct 28.

PubMed [citation]
PMID:
25351510
PMCID:
PMC4345808

Details of each submission

From Ambry Genetics, SCV000737961.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.G1025A variant (also known as c.3074G>C), located in coding exon 27 of the ANK2 gene, results from a G to C substitution at nucleotide position 3074. The glycine at codon 1025 is replaced by alanine, an amino acid with similar properties. This alteration has been reported in a hypertrophic cardiomyopathy (HCM) cohort; however, clinical details were limited (Lopes LR et al. Heart, 2015 Feb;101:294-301). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2021

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