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NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Apr 1, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001721514.15

Allele description [Variation Report for NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr)]

NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr)

Genes:
LOC126807137:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 [Gene]
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr)
HGVS:
  • NC_000004.12:g.113355885G>A
  • NG_009006.2:g.542803G>A
  • NM_001127493.3:c.4400-4938G>A
  • NM_001148.6:c.7267G>AMANE SELECT
  • NM_001354225.2:c.4439-4938G>A
  • NM_001354228.2:c.4328-4938G>A
  • NM_001354230.2:c.4406-4938G>A
  • NM_001354231.2:c.4469-4938G>A
  • NM_001354232.2:c.4463-4938G>A
  • NM_001354235.2:c.4424-4938G>A
  • NM_001354236.2:c.4325-4938G>A
  • NM_001354237.2:c.4505-4938G>A
  • NM_001354239.2:c.4397-4938G>A
  • NM_001354240.2:c.4472-4938G>A
  • NM_001354241.2:c.4472-4938G>A
  • NM_001354242.2:c.4469-4938G>A
  • NM_001354243.2:c.4364-4938G>A
  • NM_001354244.2:c.4361-4938G>A
  • NM_001354245.2:c.4265-4938G>A
  • NM_001354246.2:c.4424-4938G>A
  • NM_001354249.2:c.4241-4938G>A
  • NM_001354252.2:c.4397-4938G>A
  • NM_001354253.2:c.4202-4938G>A
  • NM_001354254.2:c.4376-4938G>A
  • NM_001354255.2:c.4364-4938G>A
  • NM_001354256.2:c.4361-4938G>A
  • NM_001354257.2:c.4166-4938G>A
  • NM_001354258.2:c.4328-4938G>A
  • NM_001354260.2:c.4142-4938G>A
  • NM_001354261.2:c.4286-4938G>A
  • NM_001354262.2:c.4265-4938G>A
  • NM_001354264.2:c.4262-4938G>A
  • NM_001354265.2:c.4424-4938G>A
  • NM_001354266.2:c.4241-4938G>A
  • NM_001354267.2:c.4241-4938G>A
  • NM_001354268.2:c.4229-4938G>A
  • NM_001354269.3:c.4214-4938G>A
  • NM_001354270.2:c.4202-4938G>A
  • NM_001354271.2:c.4142-4938G>A
  • NM_001354272.2:c.4298-4938G>A
  • NM_001354273.2:c.4127-4938G>A
  • NM_001354274.2:c.4193-4938G>A
  • NM_001354275.2:c.4265-4938G>A
  • NM_001354276.2:c.4241-4938G>A
  • NM_001354277.2:c.4043-4938G>A
  • NM_001354278.2:c.1955-4938G>A
  • NM_001354279.2:c.1991-4938G>A
  • NM_001354280.2:c.1976-4938G>A
  • NM_001354281.2:c.1955-4938G>A
  • NM_001354282.2:c.1991-4938G>A
  • NM_001386142.1:c.7033G>A
  • NM_001386143.1:c.4364-4938G>A
  • NM_001386144.1:c.4472-4938G>A
  • NM_001386146.1:c.4208-4938G>A
  • NM_001386147.1:c.4253-4938G>A
  • NM_001386148.2:c.4412-4938G>A
  • NM_001386149.1:c.4208-4938G>A
  • NM_001386150.1:c.4208-4938G>A
  • NM_001386151.1:c.4142-4938G>A
  • NM_001386152.1:c.4484-4938G>A
  • NM_001386153.1:c.4208-4938G>A
  • NM_001386154.1:c.4193-4938G>A
  • NM_001386156.1:c.4166-4938G>A
  • NM_001386157.1:c.4043-4938G>A
  • NM_001386158.1:c.3944-4938G>A
  • NM_001386160.1:c.4271-4938G>A
  • NM_001386161.1:c.4361-4938G>A
  • NM_001386162.1:c.4241-4938G>A
  • NM_001386166.1:c.3667G>A
  • NM_001386167.1:c.827-4938G>A
  • NM_001386174.1:c.7408G>A
  • NM_001386175.1:c.7384G>A
  • NM_001386186.2:c.4412-4938G>A
  • NM_001386187.2:c.4292-4938G>A
  • NM_020977.5:c.4427-4938G>A
  • NP_001139.3:p.Ala2423Thr
  • NP_001373071.1:p.Ala2345Thr
  • NP_001373095.1:p.Ala1223Thr
  • NP_001373103.1:p.Ala2470Thr
  • NP_001373104.1:p.Ala2462Thr
  • LRG_327t1:c.7267G>A
  • LRG_327:g.542803G>A
  • NC_000004.11:g.114277041G>A
  • NM_001148.4:c.7267G>A
Protein change:
A1223T
Links:
dbSNP: rs3733616
NCBI 1000 Genomes Browser:
rs3733616
Molecular consequence:
  • NM_001127493.3:c.4400-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.2:c.4439-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.2:c.4328-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.2:c.4406-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.2:c.4469-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.2:c.4463-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.2:c.4424-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.2:c.4325-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.2:c.4505-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.2:c.4397-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.2:c.4472-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.2:c.4472-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.2:c.4469-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.2:c.4364-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.2:c.4361-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.2:c.4265-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.2:c.4424-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.2:c.4241-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.2:c.4397-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.2:c.4202-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.2:c.4376-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.2:c.4364-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.2:c.4361-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.2:c.4166-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.2:c.4328-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.2:c.4142-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.2:c.4286-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.2:c.4265-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.2:c.4262-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.2:c.4424-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.2:c.4241-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.2:c.4241-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.2:c.4229-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.3:c.4214-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.2:c.4202-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.2:c.4142-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.2:c.4298-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.2:c.4127-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.2:c.4193-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.2:c.4265-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.2:c.4241-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.2:c.4043-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.2:c.1955-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.2:c.1991-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.2:c.1976-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.2:c.1955-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.2:c.1991-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386143.1:c.4364-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386144.1:c.4472-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386146.1:c.4208-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386147.1:c.4253-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386148.2:c.4412-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386149.1:c.4208-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386150.1:c.4208-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386151.1:c.4142-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386152.1:c.4484-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386153.1:c.4208-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386154.1:c.4193-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386156.1:c.4166-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386157.1:c.4043-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386158.1:c.3944-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386160.1:c.4271-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386161.1:c.4361-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386162.1:c.4241-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386167.1:c.827-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386186.2:c.4412-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386187.2:c.4292-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.5:c.4427-4938G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.7267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386142.1:c.7033G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386166.1:c.3667G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386174.1:c.7408G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386175.1:c.7384G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000728499GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jun 14, 2019) 		germlineclinical testing

Citation Link,

SCV004148748CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Apr 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000728499.3

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

Description

This variant is associated with the following publications: (PMID: 25351510)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004148748.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ANK2: BP4

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

Last Updated: Jun 9, 2024