NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 5, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000998282.2

Allele description [Variation Report for NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu)]

NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu)
HGVS:
  • NC_000004.12:g.113358443T>G
  • NG_009006.2:g.545361T>G
  • NM_001127493.2:c.4400-2380T>G
  • NM_001148.6:c.9825T>GMANE SELECT
  • NM_001354225.1:c.4439-2380T>G
  • NM_001354228.1:c.4328-2380T>G
  • NM_001354230.1:c.4406-2380T>G
  • NM_001354231.1:c.4469-2380T>G
  • NM_001354232.1:c.4463-2380T>G
  • NM_001354235.1:c.4424-2380T>G
  • NM_001354236.1:c.4325-2380T>G
  • NM_001354237.1:c.4505-2380T>G
  • NM_001354239.1:c.4397-2380T>G
  • NM_001354240.1:c.4472-2380T>G
  • NM_001354241.1:c.4472-2380T>G
  • NM_001354242.1:c.4469-2380T>G
  • NM_001354243.1:c.4364-2380T>G
  • NM_001354244.1:c.4361-2380T>G
  • NM_001354245.1:c.4265-2380T>G
  • NM_001354246.1:c.4424-2380T>G
  • NM_001354249.1:c.4241-2380T>G
  • NM_001354252.1:c.4397-2380T>G
  • NM_001354253.1:c.4202-2380T>G
  • NM_001354254.1:c.4376-2380T>G
  • NM_001354255.1:c.4364-2380T>G
  • NM_001354256.1:c.4361-2380T>G
  • NM_001354257.1:c.4166-2380T>G
  • NM_001354258.1:c.4328-2380T>G
  • NM_001354260.1:c.4142-2380T>G
  • NM_001354261.1:c.4286-2380T>G
  • NM_001354262.1:c.4265-2380T>G
  • NM_001354264.1:c.4262-2380T>G
  • NM_001354265.1:c.4424-2380T>G
  • NM_001354266.1:c.4241-2380T>G
  • NM_001354267.1:c.4241-2380T>G
  • NM_001354268.1:c.4229-2380T>G
  • NM_001354269.1:c.4214-2380T>G
  • NM_001354270.1:c.4202-2380T>G
  • NM_001354271.1:c.4142-2380T>G
  • NM_001354272.1:c.4298-2380T>G
  • NM_001354273.1:c.4127-2380T>G
  • NM_001354274.1:c.4193-2380T>G
  • NM_001354275.1:c.4265-2380T>G
  • NM_001354276.1:c.4241-2380T>G
  • NM_001354277.1:c.4043-2380T>G
  • NM_001354278.1:c.1955-2380T>G
  • NM_001354279.1:c.1991-2380T>G
  • NM_001354280.1:c.1976-2380T>G
  • NM_001354281.1:c.1955-2380T>G
  • NM_001354282.1:c.1991-2380T>G
  • NM_020977.4:c.4427-2380T>G
  • NP_001139.3:p.Asp3275Glu
  • LRG_327t1:c.9825T>G
  • LRG_327:g.545361T>G
  • NC_000004.11:g.114279599T>G
  • NM_001148.4:c.9825T>G
Protein change:
D3275E
Links:
dbSNP: rs149043752
NCBI 1000 Genomes Browser:
rs149043752
Molecular consequence:
  • NM_001127493.2:c.4400-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4439-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4328-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4406-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4469-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4463-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4424-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4325-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4505-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4397-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4472-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4472-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4469-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4364-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4361-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4265-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4424-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4241-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4397-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4202-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4376-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4364-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4361-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4166-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4328-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4142-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4286-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4265-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4262-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4424-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4241-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4241-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4229-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4214-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4202-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4142-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4298-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4127-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4193-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4265-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4241-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4043-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1955-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1991-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1976-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1955-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1991-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4427-2380T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.9825T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001154258CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Nov 1, 2018)
germlineclinical testing

Citation Link,

SCV001771637GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 5, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001154258.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001771637.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Identified independently and in conjunction with additional cardiogenetic variants in individuals referred for cardiac genetic testing at GeneDx; segregation data is limited or absent at this time; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Located in exon 38, which is reported as being expressed in a brain-specific transcript (Otto et al, 1991; Cunha et al, 2008; Wu et al, 2015); Reported in ClinVar (ClinVar Variant ID# 263634; Landrum et al., 2016)

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

Last Updated: Aug 17, 2021

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