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NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) AND not specified

Germline classification:
Benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001001685.13

Allele description [Variation Report for NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)]

NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)
HGVS:
  • NC_000004.12:g.113359013G>A
  • NG_009006.2:g.545931G>A
  • NM_001127493.3:c.4400-1810G>A
  • NM_001148.6:c.10395G>AMANE SELECT
  • NM_001354225.2:c.4439-1810G>A
  • NM_001354228.2:c.4328-1810G>A
  • NM_001354230.2:c.4406-1810G>A
  • NM_001354231.2:c.4469-1810G>A
  • NM_001354232.2:c.4463-1810G>A
  • NM_001354235.2:c.4424-1810G>A
  • NM_001354236.2:c.4325-1810G>A
  • NM_001354237.2:c.4505-1810G>A
  • NM_001354239.2:c.4397-1810G>A
  • NM_001354240.2:c.4472-1810G>A
  • NM_001354241.2:c.4472-1810G>A
  • NM_001354242.2:c.4469-1810G>A
  • NM_001354243.2:c.4364-1810G>A
  • NM_001354244.2:c.4361-1810G>A
  • NM_001354245.2:c.4265-1810G>A
  • NM_001354246.2:c.4424-1810G>A
  • NM_001354249.2:c.4241-1810G>A
  • NM_001354252.2:c.4397-1810G>A
  • NM_001354253.2:c.4202-1810G>A
  • NM_001354254.2:c.4376-1810G>A
  • NM_001354255.2:c.4364-1810G>A
  • NM_001354256.2:c.4361-1810G>A
  • NM_001354257.2:c.4166-1810G>A
  • NM_001354258.2:c.4328-1810G>A
  • NM_001354260.2:c.4142-1810G>A
  • NM_001354261.2:c.4286-1810G>A
  • NM_001354262.2:c.4265-1810G>A
  • NM_001354264.2:c.4262-1810G>A
  • NM_001354265.2:c.4424-1810G>A
  • NM_001354266.2:c.4241-1810G>A
  • NM_001354267.2:c.4241-1810G>A
  • NM_001354268.2:c.4229-1810G>A
  • NM_001354269.3:c.4214-1810G>A
  • NM_001354270.2:c.4202-1810G>A
  • NM_001354271.2:c.4142-1810G>A
  • NM_001354272.2:c.4298-1810G>A
  • NM_001354273.2:c.4127-1810G>A
  • NM_001354274.2:c.4193-1810G>A
  • NM_001354275.2:c.4265-1810G>A
  • NM_001354276.2:c.4241-1810G>A
  • NM_001354277.2:c.4043-1810G>A
  • NM_001354278.2:c.1955-1810G>A
  • NM_001354279.2:c.1991-1810G>A
  • NM_001354280.2:c.1976-1810G>A
  • NM_001354281.2:c.1955-1810G>A
  • NM_001354282.2:c.1991-1810G>A
  • NM_001386142.1:c.10161G>A
  • NM_001386143.1:c.4364-1810G>A
  • NM_001386144.1:c.4472-1810G>A
  • NM_001386146.1:c.4208-1810G>A
  • NM_001386147.1:c.4253-1810G>A
  • NM_001386148.2:c.4412-1810G>A
  • NM_001386149.1:c.4208-1810G>A
  • NM_001386150.1:c.4208-1810G>A
  • NM_001386151.1:c.4142-1810G>A
  • NM_001386152.1:c.4484-1810G>A
  • NM_001386153.1:c.4208-1810G>A
  • NM_001386154.1:c.4193-1810G>A
  • NM_001386156.1:c.4166-1810G>A
  • NM_001386157.1:c.4043-1810G>A
  • NM_001386158.1:c.3944-1810G>A
  • NM_001386160.1:c.4271-1810G>A
  • NM_001386161.1:c.4361-1810G>A
  • NM_001386162.1:c.4241-1810G>A
  • NM_001386166.1:c.6795G>A
  • NM_001386167.1:c.827-1810G>A
  • NM_001386174.1:c.10536G>A
  • NM_001386175.1:c.10512G>A
  • NM_001386186.2:c.4412-1810G>A
  • NM_001386187.2:c.4292-1810G>A
  • NM_020977.5:c.4427-1810G>A
  • NP_001139.3:p.Glu3465=
  • NP_001373071.1:p.Glu3387=
  • NP_001373095.1:p.Glu2265=
  • NP_001373103.1:p.Glu3512=
  • NP_001373104.1:p.Glu3504=
  • LRG_327t1:c.10395G>A
  • LRG_327:g.545931G>A
  • NC_000004.11:g.114280169G>A
  • NM_001148.4:c.10395G>A
Links:
dbSNP: rs147423696
NCBI 1000 Genomes Browser:
rs147423696
Molecular consequence:
  • NM_001127493.3:c.4400-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.2:c.4439-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.2:c.4328-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.2:c.4406-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.2:c.4469-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.2:c.4463-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.2:c.4424-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.2:c.4325-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.2:c.4505-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.2:c.4397-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.2:c.4472-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.2:c.4472-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.2:c.4469-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.2:c.4364-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.2:c.4361-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.2:c.4265-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.2:c.4424-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.2:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.2:c.4397-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.2:c.4202-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.2:c.4376-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.2:c.4364-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.2:c.4361-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.2:c.4166-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.2:c.4328-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.2:c.4142-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.2:c.4286-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.2:c.4265-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.2:c.4262-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.2:c.4424-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.2:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.2:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.2:c.4229-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.3:c.4214-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.2:c.4202-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.2:c.4142-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.2:c.4298-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.2:c.4127-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.2:c.4193-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.2:c.4265-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.2:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.2:c.4043-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.2:c.1955-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.2:c.1991-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.2:c.1976-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.2:c.1955-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.2:c.1991-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386143.1:c.4364-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386144.1:c.4472-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386146.1:c.4208-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386147.1:c.4253-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386148.2:c.4412-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386149.1:c.4208-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386150.1:c.4208-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386151.1:c.4142-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386152.1:c.4484-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386153.1:c.4208-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386154.1:c.4193-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386156.1:c.4166-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386157.1:c.4043-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386158.1:c.3944-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386160.1:c.4271-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386161.1:c.4361-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386162.1:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386167.1:c.827-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386186.2:c.4412-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386187.2:c.4292-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.5:c.4427-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.10395G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386142.1:c.10161G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386166.1:c.6795G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386174.1:c.10536G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386175.1:c.10512G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001923038Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001923038.1

#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: Sep 29, 2024