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NM_001148.6(ANK2):c.3379+12T>G AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Sep 23, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001192815.11

Allele description [Variation Report for NM_001148.6(ANK2):c.3379+12T>G]

NM_001148.6(ANK2):c.3379+12T>G

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.3379+12T>G
HGVS:
  • NC_000004.12:g.113333220T>G
  • NG_009006.2:g.520138T>G
  • NM_001127493.3:c.3352+12T>G
  • NM_001148.6:c.3379+12T>GMANE SELECT
  • NM_001354225.2:c.3391+12T>G
  • NM_001354228.2:c.3280+12T>G
  • NM_001354230.2:c.3358+12T>G
  • NM_001354231.2:c.3421+12T>G
  • NM_001354232.2:c.3415+12T>G
  • NM_001354235.2:c.3376+12T>G
  • NM_001354236.2:c.3277+12T>G
  • NM_001354237.2:c.3457+12T>G
  • NM_001354239.2:c.3349+12T>G
  • NM_001354240.2:c.3424+12T>G
  • NM_001354241.2:c.3424+12T>G
  • NM_001354242.2:c.3421+12T>G
  • NM_001354243.2:c.3316+12T>G
  • NM_001354244.2:c.3313+12T>G
  • NM_001354245.2:c.3217+12T>G
  • NM_001354246.2:c.3376+12T>G
  • NM_001354249.2:c.3193+12T>G
  • NM_001354252.2:c.3349+12T>G
  • NM_001354253.2:c.3154+12T>G
  • NM_001354254.2:c.3328+12T>G
  • NM_001354255.2:c.3316+12T>G
  • NM_001354256.2:c.3313+12T>G
  • NM_001354257.2:c.3118+12T>G
  • NM_001354258.2:c.3280+12T>G
  • NM_001354260.2:c.3094+12T>G
  • NM_001354261.2:c.3238+12T>G
  • NM_001354262.2:c.3217+12T>G
  • NM_001354264.2:c.3193+12T>G
  • NM_001354265.2:c.3376+12T>G
  • NM_001354266.2:c.3193+12T>G
  • NM_001354267.2:c.3193+12T>G
  • NM_001354268.2:c.3181+12T>G
  • NM_001354269.3:c.3166+12T>G
  • NM_001354270.2:c.3154+12T>G
  • NM_001354271.2:c.3094+12T>G
  • NM_001354272.2:c.3250+12T>G
  • NM_001354273.2:c.3079+12T>G
  • NM_001354274.2:c.3178+12T>G
  • NM_001354275.2:c.3217+12T>G
  • NM_001354276.2:c.3193+12T>G
  • NM_001354277.2:c.2995+12T>G
  • NM_001354278.2:c.907+12T>G
  • NM_001354279.2:c.943+12T>G
  • NM_001354280.2:c.907+12T>G
  • NM_001354281.2:c.907+12T>G
  • NM_001354282.2:c.943+12T>G
  • NM_001386142.1:c.3178+12T>G
  • NM_001386143.1:c.3316+12T>G
  • NM_001386144.1:c.3424+12T>G
  • NM_001386146.1:c.3193+12T>G
  • NM_001386147.1:c.3238+12T>G
  • NM_001386148.2:c.3364+12T>G
  • NM_001386149.1:c.3193+12T>G
  • NM_001386150.1:c.3193+12T>G
  • NM_001386151.1:c.3094+12T>G
  • NM_001386152.1:c.3436+12T>G
  • NM_001386153.1:c.3193+12T>G
  • NM_001386154.1:c.3178+12T>G
  • NM_001386156.1:c.3118+12T>G
  • NM_001386157.1:c.2995+12T>G
  • NM_001386158.1:c.2896+12T>G
  • NM_001386160.1:c.3223+12T>G
  • NM_001386161.1:c.3313+12T>G
  • NM_001386162.1:c.3193+12T>G
  • NM_001386174.1:c.3520+12T>G
  • NM_001386175.1:c.3496+12T>G
  • NM_001386186.2:c.3364+12T>G
  • NM_001386187.2:c.3244+12T>G
  • NM_020977.5:c.3379+12T>G
  • LRG_327t1:c.3379+12T>G
  • LRG_327:g.520138T>G
  • NC_000004.11:g.114254376T>G
  • NM_001148.4:c.3379+12T>G
Links:
dbSNP: rs139528815
NCBI 1000 Genomes Browser:
rs139528815
Molecular consequence:
  • NM_001127493.3:c.3352+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.3379+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.2:c.3391+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.2:c.3280+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.2:c.3358+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.2:c.3421+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.2:c.3415+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.2:c.3376+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.2:c.3277+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.2:c.3457+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.2:c.3349+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.2:c.3424+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.2:c.3424+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.2:c.3421+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.2:c.3316+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.2:c.3313+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.2:c.3217+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.2:c.3376+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.2:c.3193+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.2:c.3349+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.2:c.3154+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.2:c.3328+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.2:c.3316+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.2:c.3313+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.2:c.3118+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.2:c.3280+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.2:c.3094+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.2:c.3238+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.2:c.3217+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.2:c.3193+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.2:c.3376+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.2:c.3193+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.2:c.3193+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.2:c.3181+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.3:c.3166+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.2:c.3154+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.2:c.3094+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.2:c.3250+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.2:c.3079+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.2:c.3178+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.2:c.3217+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.2:c.3193+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.2:c.2995+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.2:c.907+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.2:c.943+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.2:c.907+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.2:c.907+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.2:c.943+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386142.1:c.3178+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386143.1:c.3316+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386144.1:c.3424+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386146.1:c.3193+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386147.1:c.3238+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386148.2:c.3364+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386149.1:c.3193+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386150.1:c.3193+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386151.1:c.3094+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386152.1:c.3436+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386153.1:c.3193+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386154.1:c.3178+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386156.1:c.3118+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386157.1:c.2995+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386158.1:c.2896+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386160.1:c.3223+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386161.1:c.3313+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386162.1:c.3193+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386174.1:c.3520+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386175.1:c.3496+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386186.2:c.3364+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386187.2:c.3244+12T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.5:c.3379+12T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001361178Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Sep 23, 2019) 		germlineclinical testing

Citation Link,

SCV001922202Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001361178.1

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

Description

Variant summary: ANK2 c.3379+12T>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0019 in 251208 control chromosomes in the gnomAD database, including 7 homozygotes. The observed variant frequency is approximately 185.5 fold of the estimated maximal expected allele frequency for a pathogenic variant in ANK2 causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.3379+12T>G in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.

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

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001922202.1

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

Last Updated: Nov 24, 2024