U.S. flag

An official website of the United States government

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

Germline classification:
Benign (2 submissions)
Last evaluated:
Sep 22, 2023
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:
RCV001618619.17

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:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001472674ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Sep 22, 2023) 		germlineclinical testing

Citation Link,

SCV001846991GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Mar 3, 2015) 		germlineclinical testing

Citation Link

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472674.2

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

From GeneDx, SCV001846991.1

#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