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NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 23, 2020
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:
RCV001811634.13

Allele description [Variation Report for NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn)]

NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn)

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.7412G>A (p.Ser2471Asn)
HGVS:
  • NC_000004.12:g.113356030G>A
  • NG_009006.2:g.542948G>A
  • NM_001127493.3:c.4400-4793G>A
  • NM_001148.6:c.7412G>AMANE SELECT
  • NM_001354225.2:c.4439-4793G>A
  • NM_001354228.2:c.4328-4793G>A
  • NM_001354230.2:c.4406-4793G>A
  • NM_001354231.2:c.4469-4793G>A
  • NM_001354232.2:c.4463-4793G>A
  • NM_001354235.2:c.4424-4793G>A
  • NM_001354236.2:c.4325-4793G>A
  • NM_001354237.2:c.4505-4793G>A
  • NM_001354239.2:c.4397-4793G>A
  • NM_001354240.2:c.4472-4793G>A
  • NM_001354241.2:c.4472-4793G>A
  • NM_001354242.2:c.4469-4793G>A
  • NM_001354243.2:c.4364-4793G>A
  • NM_001354244.2:c.4361-4793G>A
  • NM_001354245.2:c.4265-4793G>A
  • NM_001354246.2:c.4424-4793G>A
  • NM_001354249.2:c.4241-4793G>A
  • NM_001354252.2:c.4397-4793G>A
  • NM_001354253.2:c.4202-4793G>A
  • NM_001354254.2:c.4376-4793G>A
  • NM_001354255.2:c.4364-4793G>A
  • NM_001354256.2:c.4361-4793G>A
  • NM_001354257.2:c.4166-4793G>A
  • NM_001354258.2:c.4328-4793G>A
  • NM_001354260.2:c.4142-4793G>A
  • NM_001354261.2:c.4286-4793G>A
  • NM_001354262.2:c.4265-4793G>A
  • NM_001354264.2:c.4262-4793G>A
  • NM_001354265.2:c.4424-4793G>A
  • NM_001354266.2:c.4241-4793G>A
  • NM_001354267.2:c.4241-4793G>A
  • NM_001354268.2:c.4229-4793G>A
  • NM_001354269.3:c.4214-4793G>A
  • NM_001354270.2:c.4202-4793G>A
  • NM_001354271.2:c.4142-4793G>A
  • NM_001354272.2:c.4298-4793G>A
  • NM_001354273.2:c.4127-4793G>A
  • NM_001354274.2:c.4193-4793G>A
  • NM_001354275.2:c.4265-4793G>A
  • NM_001354276.2:c.4241-4793G>A
  • NM_001354277.2:c.4043-4793G>A
  • NM_001354278.2:c.1955-4793G>A
  • NM_001354279.2:c.1991-4793G>A
  • NM_001354280.2:c.1976-4793G>A
  • NM_001354281.2:c.1955-4793G>A
  • NM_001354282.2:c.1991-4793G>A
  • NM_001386142.1:c.7178G>A
  • NM_001386143.1:c.4364-4793G>A
  • NM_001386144.1:c.4472-4793G>A
  • NM_001386146.1:c.4208-4793G>A
  • NM_001386147.1:c.4253-4793G>A
  • NM_001386148.2:c.4412-4793G>A
  • NM_001386149.1:c.4208-4793G>A
  • NM_001386150.1:c.4208-4793G>A
  • NM_001386151.1:c.4142-4793G>A
  • NM_001386152.1:c.4484-4793G>A
  • NM_001386153.1:c.4208-4793G>A
  • NM_001386154.1:c.4193-4793G>A
  • NM_001386156.1:c.4166-4793G>A
  • NM_001386157.1:c.4043-4793G>A
  • NM_001386158.1:c.3944-4793G>A
  • NM_001386160.1:c.4271-4793G>A
  • NM_001386161.1:c.4361-4793G>A
  • NM_001386162.1:c.4241-4793G>A
  • NM_001386166.1:c.3812G>A
  • NM_001386167.1:c.827-4793G>A
  • NM_001386174.1:c.7553G>A
  • NM_001386175.1:c.7529G>A
  • NM_001386186.2:c.4412-4793G>A
  • NM_001386187.2:c.4292-4793G>A
  • NM_020977.5:c.4427-4793G>A
  • NP_001139.3:p.Ser2471Asn
  • NP_001373071.1:p.Ser2393Asn
  • NP_001373095.1:p.Ser1271Asn
  • NP_001373103.1:p.Ser2518Asn
  • NP_001373104.1:p.Ser2510Asn
  • LRG_327t1:c.7412G>A
  • LRG_327:g.542948G>A
  • NC_000004.11:g.114277186G>A
  • NM_001148.4:c.7412G>A
Protein change:
S1271N
Links:
dbSNP: rs375139170
NCBI 1000 Genomes Browser:
rs375139170
Molecular consequence:
  • NM_001127493.3:c.4400-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.2:c.4439-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.2:c.4328-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.2:c.4406-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.2:c.4469-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.2:c.4463-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.2:c.4424-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.2:c.4325-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.2:c.4505-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.2:c.4397-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.2:c.4472-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.2:c.4472-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.2:c.4469-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.2:c.4364-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.2:c.4361-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.2:c.4265-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.2:c.4424-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.2:c.4241-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.2:c.4397-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.2:c.4202-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.2:c.4376-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.2:c.4364-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.2:c.4361-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.2:c.4166-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.2:c.4328-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.2:c.4142-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.2:c.4286-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.2:c.4265-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.2:c.4262-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.2:c.4424-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.2:c.4241-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.2:c.4241-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.2:c.4229-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.3:c.4214-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.2:c.4202-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.2:c.4142-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.2:c.4298-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.2:c.4127-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.2:c.4193-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.2:c.4265-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.2:c.4241-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.2:c.4043-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.2:c.1955-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.2:c.1991-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.2:c.1976-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.2:c.1955-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.2:c.1991-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386143.1:c.4364-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386144.1:c.4472-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386146.1:c.4208-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386147.1:c.4253-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386148.2:c.4412-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386149.1:c.4208-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386150.1:c.4208-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386151.1:c.4142-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386152.1:c.4484-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386153.1:c.4208-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386154.1:c.4193-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386156.1:c.4166-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386157.1:c.4043-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386158.1:c.3944-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386160.1:c.4271-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386161.1:c.4361-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386162.1:c.4241-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386167.1:c.827-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386186.2:c.4412-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386187.2:c.4292-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.5:c.4427-4793G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.7412G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386142.1:c.7178G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386166.1:c.3812G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386174.1:c.7553G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386175.1:c.7529G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001474411ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
Uncertain significance
(Aug 23, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001474411.1

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

Description

The ANK2 c.7412G>A, p.Ser2471Asn variant (rs375139170), to our knowledge, is not reported in the medical literature but is reported as uncertain in ClinVar (Variation ID: 851921). This variant is found in the African population with an allele frequency of 0.02% (2/24,958 alleles) in the Genome Aggregation Database. The serine at codon 2471 is moderately conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Ser2471Asn variant is uncertain at this time. Gene statement: Pathogenic variants in ANK2 are associated with autosomal dominant ankyrin-B-related cardiac arrhythmia and long QT syndrome 4 (MIM: 600919).

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

Last Updated: Jul 15, 2024