NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 13, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000437323.4

Allele description [Variation Report for NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)]

NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)
HGVS:
  • NC_000004.12:g.113353074G>C
  • NG_009006.2:g.539992G>C
  • NM_001127493.2:c.4399+2825G>C
  • NM_001148.6:c.4456G>CMANE SELECT
  • NM_001354225.1:c.4438+2825G>C
  • NM_001354228.1:c.4327+2825G>C
  • NM_001354230.1:c.4405+2825G>C
  • NM_001354231.1:c.4468+2825G>C
  • NM_001354232.1:c.4462+2825G>C
  • NM_001354235.1:c.4423+2825G>C
  • NM_001354236.1:c.4324+2825G>C
  • NM_001354237.1:c.4504+2825G>C
  • NM_001354239.1:c.4396+2825G>C
  • NM_001354240.1:c.4471+2825G>C
  • NM_001354241.1:c.4471+2825G>C
  • NM_001354242.1:c.4468+2825G>C
  • NM_001354243.1:c.4363+2825G>C
  • NM_001354244.1:c.4360+2825G>C
  • NM_001354245.1:c.4264+2825G>C
  • NM_001354246.1:c.4423+2825G>C
  • NM_001354249.1:c.4240+2825G>C
  • NM_001354252.1:c.4396+2825G>C
  • NM_001354253.1:c.4201+2825G>C
  • NM_001354254.1:c.4375+2825G>C
  • NM_001354255.1:c.4363+2825G>C
  • NM_001354256.1:c.4360+2825G>C
  • NM_001354257.1:c.4165+2825G>C
  • NM_001354258.1:c.4327+2825G>C
  • NM_001354260.1:c.4141+2825G>C
  • NM_001354261.1:c.4285+2825G>C
  • NM_001354262.1:c.4264+2825G>C
  • NM_001354264.1:c.4261+2825G>C
  • NM_001354265.1:c.4423+2825G>C
  • NM_001354266.1:c.4240+2825G>C
  • NM_001354267.1:c.4240+2825G>C
  • NM_001354268.1:c.4228+2825G>C
  • NM_001354269.1:c.4213+2825G>C
  • NM_001354270.1:c.4201+2825G>C
  • NM_001354271.1:c.4141+2825G>C
  • NM_001354272.1:c.4297+2825G>C
  • NM_001354273.1:c.4126+2825G>C
  • NM_001354274.1:c.4192+2825G>C
  • NM_001354275.1:c.4264+2825G>C
  • NM_001354276.1:c.4240+2825G>C
  • NM_001354277.1:c.4042+2825G>C
  • NM_001354278.1:c.1954+2825G>C
  • NM_001354279.1:c.1990+2825G>C
  • NM_001354280.1:c.1975+2825G>C
  • NM_001354281.1:c.1954+2825G>C
  • NM_001354282.1:c.1990+2825G>C
  • NM_020977.4:c.4426+2825G>C
  • NP_001139.3:p.Val1486Leu
  • LRG_327t1:c.4456G>C
  • LRG_327:g.539992G>C
  • NC_000004.11:g.114274230G>C
  • NM_001148.4:c.4456G>C
  • NM_001148.5:c.4456G>C
Protein change:
V1486L
Links:
dbSNP: rs149678604
NCBI 1000 Genomes Browser:
rs149678604
Molecular consequence:
  • NM_001127493.2:c.4399+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4438+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4327+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4405+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4468+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4462+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4423+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4324+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4504+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4396+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4471+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4471+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4468+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4363+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4360+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4264+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4423+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4240+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4396+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4201+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4375+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4363+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4360+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4165+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4327+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4141+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4285+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4264+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4261+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4423+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4240+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4240+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4228+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4213+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4201+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4141+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4297+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4126+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4192+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4264+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4240+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4042+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1954+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1990+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1975+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1954+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1990+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4426+2825G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.4456G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000512040GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 13, 2018)
germlineclinical testing

Citation Link,

SCV000987637Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institutecriteria provided, single submitter
Uncertain significancegermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000512040.4

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

Description

The V1486L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V1486L variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. However, V1486L is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position where amino acids with similar properties to valine are tolerated across species, including L1486 which is wildtype in at least one non-mammalian species. Lastly, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute, SCV000987637.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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