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NM_001148.6(ANK2):c.11687T>C (p.Val3896Ala) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 24, 2024
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:
RCV004364597.1

Allele description [Variation Report for NM_001148.6(ANK2):c.11687T>C (p.Val3896Ala)]

NM_001148.6(ANK2):c.11687T>C (p.Val3896Ala)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.11687T>C (p.Val3896Ala)
HGVS:
  • NC_000004.12:g.113373166T>C
  • NG_009006.2:g.560084T>C
  • NM_001127493.3:c.5405T>C
  • NM_001148.6:c.11687T>CMANE SELECT
  • NM_001354225.2:c.5444T>C
  • NM_001354228.2:c.5426T>C
  • NM_001354230.2:c.5411T>C
  • NM_001354231.2:c.5567T>C
  • NM_001354232.2:c.5561T>C
  • NM_001354235.2:c.5522T>C
  • NM_001354236.2:c.5330T>C
  • NM_001354237.2:c.5510T>C
  • NM_001354239.2:c.5495T>C
  • NM_001354240.2:c.5477T>C
  • NM_001354241.2:c.5477T>C
  • NM_001354242.2:c.5474T>C
  • NM_001354243.2:c.5462T>C
  • NM_001354244.2:c.5459T>C
  • NM_001354245.2:c.5270T>C
  • NM_001354246.2:c.5429T>C
  • NM_001354249.2:c.5246T>C
  • NM_001354252.2:c.5402T>C
  • NM_001354253.2:c.5207T>C
  • NM_001354254.2:c.5381T>C
  • NM_001354255.2:c.5369T>C
  • NM_001354256.2:c.5366T>C
  • NM_001354257.2:c.5171T>C
  • NM_001354258.2:c.5333T>C
  • NM_001354260.2:c.5147T>C
  • NM_001354261.2:c.5291T>C
  • NM_001354262.2:c.5270T>C
  • NM_001354264.2:c.5267T>C
  • NM_001354265.2:c.5429T>C
  • NM_001354266.2:c.5246T>C
  • NM_001354267.2:c.5246T>C
  • NM_001354268.2:c.5234T>C
  • NM_001354269.3:c.5219T>C
  • NM_001354270.2:c.5207T>C
  • NM_001354271.2:c.5147T>C
  • NM_001354272.2:c.5303T>C
  • NM_001354273.2:c.5132T>C
  • NM_001354274.2:c.5291T>C
  • NM_001354275.2:c.5270T>C
  • NM_001354276.2:c.5246T>C
  • NM_001354277.2:c.5048T>C
  • NM_001354278.2:c.2960T>C
  • NM_001354279.2:c.2996T>C
  • NM_001354280.2:c.2981T>C
  • NM_001354281.2:c.2960T>C
  • NM_001354282.2:c.2996T>C
  • NM_001386142.1:c.11453T>C
  • NM_001386143.1:c.5462T>C
  • NM_001386144.1:c.5570T>C
  • NM_001386146.1:c.5306T>C
  • NM_001386147.1:c.5258T>C
  • NM_001386148.2:c.5417T>C
  • NM_001386149.1:c.5213T>C
  • NM_001386150.1:c.5306T>C
  • NM_001386151.1:c.5240T>C
  • NM_001386152.1:c.5412+3361T>C
  • NM_001386153.1:c.5213T>C
  • NM_001386154.1:c.5198T>C
  • NM_001386156.1:c.5171T>C
  • NM_001386157.1:c.5048T>C
  • NM_001386158.1:c.4949T>C
  • NM_001386160.1:c.5276T>C
  • NM_001386161.1:c.5366T>C
  • NM_001386162.1:c.5246T>C
  • NM_001386166.1:c.8087T>C
  • NM_001386167.1:c.1925T>C
  • NM_001386174.1:c.11921T>C
  • NM_001386175.1:c.11897T>C
  • NM_001386186.2:c.5417T>C
  • NM_001386187.2:c.5297T>C
  • NM_020977.5:c.5432T>C
  • NP_001120965.1:p.Val1802Ala
  • NP_001120965.1:p.Val1802Ala
  • NP_001139.3:p.Val3896Ala
  • NP_001139.3:p.Val3896Ala
  • NP_001341154.1:p.Val1815Ala
  • NP_001341157.1:p.Val1809Ala
  • NP_001341159.1:p.Val1804Ala
  • NP_001341160.1:p.Val1856Ala
  • NP_001341161.1:p.Val1854Ala
  • NP_001341164.1:p.Val1841Ala
  • NP_001341165.1:p.Val1777Ala
  • NP_001341166.1:p.Val1837Ala
  • NP_001341168.1:p.Val1832Ala
  • NP_001341169.1:p.Val1826Ala
  • NP_001341170.1:p.Val1826Ala
  • NP_001341171.1:p.Val1825Ala
  • NP_001341172.1:p.Val1821Ala
  • NP_001341173.1:p.Val1820Ala
  • NP_001341174.1:p.Val1757Ala
  • NP_001341175.1:p.Val1810Ala
  • NP_001341178.1:p.Val1749Ala
  • NP_001341181.1:p.Val1801Ala
  • NP_001341182.1:p.Val1736Ala
  • NP_001341183.1:p.Val1794Ala
  • NP_001341184.1:p.Val1790Ala
  • NP_001341185.1:p.Val1789Ala
  • NP_001341186.1:p.Val1724Ala
  • NP_001341187.1:p.Val1778Ala
  • NP_001341189.1:p.Val1716Ala
  • NP_001341190.1:p.Val1764Ala
  • NP_001341191.1:p.Val1757Ala
  • NP_001341193.1:p.Val1756Ala
  • NP_001341194.1:p.Val1810Ala
  • NP_001341195.1:p.Val1749Ala
  • NP_001341196.1:p.Val1749Ala
  • NP_001341197.1:p.Val1745Ala
  • NP_001341198.1:p.Val1740Ala
  • NP_001341199.1:p.Val1736Ala
  • NP_001341200.1:p.Val1716Ala
  • NP_001341201.1:p.Val1768Ala
  • NP_001341202.1:p.Val1711Ala
  • NP_001341203.1:p.Val1764Ala
  • NP_001341204.1:p.Val1757Ala
  • NP_001341205.1:p.Val1749Ala
  • NP_001341206.1:p.Val1683Ala
  • NP_001341207.1:p.Val987Ala
  • NP_001341208.1:p.Val999Ala
  • NP_001341209.1:p.Val994Ala
  • NP_001341210.1:p.Val987Ala
  • NP_001341211.1:p.Val999Ala
  • NP_001373071.1:p.Val3818Ala
  • NP_001373072.1:p.Val1821Ala
  • NP_001373073.1:p.Val1857Ala
  • NP_001373075.1:p.Val1769Ala
  • NP_001373076.1:p.Val1753Ala
  • NP_001373077.1:p.Val1806Ala
  • NP_001373078.1:p.Val1738Ala
  • NP_001373079.1:p.Val1769Ala
  • NP_001373080.1:p.Val1747Ala
  • NP_001373082.1:p.Val1738Ala
  • NP_001373083.1:p.Val1733Ala
  • NP_001373085.1:p.Val1724Ala
  • NP_001373086.1:p.Val1683Ala
  • NP_001373087.1:p.Val1650Ala
  • NP_001373089.1:p.Val1759Ala
  • NP_001373090.1:p.Val1789Ala
  • NP_001373091.1:p.Val1749Ala
  • NP_001373095.1:p.Val2696Ala
  • NP_001373096.1:p.Val642Ala
  • NP_001373103.1:p.Val3974Ala
  • NP_001373104.1:p.Val3966Ala
  • NP_001373115.1:p.Val1806Ala
  • NP_001373116.1:p.Val1766Ala
  • NP_066187.2:p.Val1811Ala
  • LRG_327t1:c.11687T>C
  • LRG_327t2:c.5405T>C
  • LRG_327:g.560084T>C
  • LRG_327p1:p.Val3896Ala
  • LRG_327p2:p.Val1802Ala
  • NC_000004.11:g.114294322T>C
  • NM_001127493.1:c.5405T>C
  • NM_001148.4:c.11687T>C
Protein change:
V1650A
Molecular consequence:
  • NM_001386152.1:c.5412+3361T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127493.3:c.5405T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001148.6:c.11687T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354225.2:c.5444T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354228.2:c.5426T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354230.2:c.5411T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354231.2:c.5567T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354232.2:c.5561T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354235.2:c.5522T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354236.2:c.5330T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354237.2:c.5510T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354239.2:c.5495T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354240.2:c.5477T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354241.2:c.5477T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354242.2:c.5474T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354243.2:c.5462T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354244.2:c.5459T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354245.2:c.5270T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354246.2:c.5429T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354249.2:c.5246T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354252.2:c.5402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354253.2:c.5207T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354254.2:c.5381T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354255.2:c.5369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354256.2:c.5366T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354257.2:c.5171T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354258.2:c.5333T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354260.2:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354261.2:c.5291T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354262.2:c.5270T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354264.2:c.5267T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354265.2:c.5429T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354266.2:c.5246T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354267.2:c.5246T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354268.2:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354269.3:c.5219T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354270.2:c.5207T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354271.2:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354272.2:c.5303T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354273.2:c.5132T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354274.2:c.5291T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354275.2:c.5270T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354276.2:c.5246T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354277.2:c.5048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354278.2:c.2960T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354279.2:c.2996T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354280.2:c.2981T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354281.2:c.2960T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354282.2:c.2996T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386142.1:c.11453T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386143.1:c.5462T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386144.1:c.5570T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386146.1:c.5306T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386147.1:c.5258T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386148.2:c.5417T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386149.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386150.1:c.5306T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386151.1:c.5240T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386153.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386154.1:c.5198T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386156.1:c.5171T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386157.1:c.5048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386158.1:c.4949T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386160.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386161.1:c.5366T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386162.1:c.5246T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386166.1:c.8087T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386167.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386174.1:c.11921T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386175.1:c.11897T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386186.2:c.5417T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386187.2:c.5297T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020977.5:c.5432T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005016717Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 24, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005016717.1

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

Description

The p.V3896A variant (also known as c.11687T>C), located in coding exon 44 of the ANK2 gene, results from a T to C substitution at nucleotide position 11687. The valine at codon 3896 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 20, 2024