NM_001148.6(ANK2):c.229G>A (p.Val77Met) AND Long QT syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 1, 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:: RCV001308456.3

Allele description

NM_001148.6(ANK2):c.229G>A (p.Val77Met)

Gene:

ANK2:ankyrin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_001148.6(ANK2):c.229G>A (p.Val77Met)

HGVS:

NC_000004.12:g.113196410G>A
NG_009006.2:g.383328G>A
NM_001127493.3:c.166G>A
NM_001148.6:c.229G>AMANE SELECT
NM_001354225.2:c.229G>A
NM_001354228.2:c.229G>A
NM_001354230.2:c.274G>A
NM_001354231.2:c.274G>A
NM_001354232.2:c.229G>A
NM_001354235.2:c.229G>A
NM_001354236.2:c.229G>A
NM_001354237.2:c.274G>A
NM_001354239.2:c.166G>A
NM_001354240.2:c.274G>A
NM_001354241.2:c.274G>A
NM_001354242.2:c.274G>A
NM_001354243.2:c.166G>A
NM_001354244.2:c.166G>A
NM_001354245.2:c.229G>A
NM_001354246.2:c.229G>A
NM_001354249.2:c.166G>A
NM_001354252.2:c.166G>A
NM_001354253.2:c.166G>A
NM_001354254.2:c.166G>A
NM_001354255.2:c.166G>A
NM_001354256.2:c.166G>A
NM_001354257.2:c.166G>A
NM_001354258.2:c.229G>A
NM_001354260.2:c.166G>A
NM_001354261.2:c.211G>A
NM_001354262.2:c.166G>A
NM_001354264.2:c.166G>A
NM_001354265.2:c.229G>A
NM_001354266.2:c.166G>A
NM_001354267.2:c.166G>A
NM_001354268.2:c.229G>A
NM_001354269.3:c.217G>A
NM_001354270.2:c.166G>A
NM_001354271.2:c.166G>A
NM_001354272.2:c.166G>A
NM_001354273.2:c.229G>A
NM_001354274.2:c.166G>A
NM_001354275.2:c.166G>A
NM_001354276.2:c.166G>A
NM_001354277.2:c.166G>A
NM_001386142.1:c.166G>A
NM_001386143.1:c.166G>A
NM_001386144.1:c.274G>A
NM_001386146.1:c.166G>A
NM_001386147.1:c.211G>A
NM_001386148.2:c.217G>A
NM_001386149.1:c.166G>A
NM_001386150.1:c.166G>A
NM_001386151.1:c.166G>A
NM_001386152.1:c.274G>A
NM_001386153.1:c.166G>A
NM_001386154.1:c.166G>A
NM_001386156.1:c.166G>A
NM_001386157.1:c.166G>A
NM_001386158.1:c.166G>A
NM_001386160.1:c.211G>A
NM_001386161.1:c.166G>A
NM_001386162.1:c.166G>A
NM_001386174.1:c.280G>A
NM_001386175.1:c.280G>A
NM_001386186.2:c.217G>A
NM_001386187.2:c.217G>A
NM_020977.5:c.229G>A
NP_001120965.1:p.Val56Met
NP_001139.3:p.Val77Met
NP_001341154.1:p.Val77Met
NP_001341157.1:p.Val77Met
NP_001341159.1:p.Val92Met
NP_001341160.1:p.Val92Met
NP_001341161.1:p.Val77Met
NP_001341164.1:p.Val77Met
NP_001341165.1:p.Val77Met
NP_001341166.1:p.Val92Met
NP_001341168.1:p.Val56Met
NP_001341169.1:p.Val92Met
NP_001341170.1:p.Val92Met
NP_001341171.1:p.Val92Met
NP_001341172.1:p.Val56Met
NP_001341173.1:p.Val56Met
NP_001341174.1:p.Val77Met
NP_001341175.1:p.Val77Met
NP_001341178.1:p.Val56Met
NP_001341181.1:p.Val56Met
NP_001341182.1:p.Val56Met
NP_001341183.1:p.Val56Met
NP_001341184.1:p.Val56Met
NP_001341185.1:p.Val56Met
NP_001341186.1:p.Val56Met
NP_001341187.1:p.Val77Met
NP_001341189.1:p.Val56Met
NP_001341190.1:p.Val71Met
NP_001341191.1:p.Val56Met
NP_001341193.1:p.Val56Met
NP_001341194.1:p.Val77Met
NP_001341195.1:p.Val56Met
NP_001341196.1:p.Val56Met
NP_001341197.1:p.Val77Met
NP_001341198.1:p.Val73Met
NP_001341199.1:p.Val56Met
NP_001341200.1:p.Val56Met
NP_001341201.1:p.Val56Met
NP_001341202.1:p.Val77Met
NP_001341203.1:p.Val56Met
NP_001341204.1:p.Val56Met
NP_001341205.1:p.Val56Met
NP_001341206.1:p.Val56Met
NP_001373071.1:p.Val56Met
NP_001373072.1:p.Val56Met
NP_001373073.1:p.Val92Met
NP_001373075.1:p.Val56Met
NP_001373076.1:p.Val71Met
NP_001373077.1:p.Val73Met
NP_001373078.1:p.Val56Met
NP_001373079.1:p.Val56Met
NP_001373080.1:p.Val56Met
NP_001373081.1:p.Val92Met
NP_001373082.1:p.Val56Met
NP_001373083.1:p.Val56Met
NP_001373085.1:p.Val56Met
NP_001373086.1:p.Val56Met
NP_001373087.1:p.Val56Met
NP_001373089.1:p.Val71Met
NP_001373090.1:p.Val56Met
NP_001373091.1:p.Val56Met
NP_001373103.1:p.Val94Met
NP_001373104.1:p.Val94Met
NP_001373115.1:p.Val73Met
NP_001373116.1:p.Val73Met
NP_066187.2:p.Val77Met
LRG_327t1:c.229G>A
LRG_327:g.383328G>A
NC_000004.11:g.114117566G>A
NM_001148.4:c.229G>A
NM_001148.6:c.229G>A

Protein change:

V56M

Links:

dbSNP: rs776254819

NCBI 1000 Genomes Browser:

rs776254819

Molecular consequence:

NM_001127493.3:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001148.6:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354225.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354228.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354230.2:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354231.2:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354232.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354235.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354236.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354237.2:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354239.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354240.2:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354241.2:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354242.2:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354243.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354244.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354245.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354246.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354249.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354252.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354253.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354254.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354255.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354256.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354257.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354258.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354260.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354261.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354262.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354264.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354265.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354266.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354267.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354268.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354269.3:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354270.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354271.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354272.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354273.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354274.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354275.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354276.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354277.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386142.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386143.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386144.1:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386146.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386147.1:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386148.2:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386149.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386150.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386151.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386152.1:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386153.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386154.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386156.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386157.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386158.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386160.1:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386161.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386162.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386174.1:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386175.1:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386186.2:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386187.2:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020977.5:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Long QT syndrome (LQTS)
Identifiers:: MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

Recent activity

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hydrogensulfite reductase [Moorella thermoacetica ATCC 39073]
hydrogensulfite reductase [Moorella thermoacetica ATCC 39073]
gi|83590466|gnl|REF_jgi|Moth_1630|r _430475.1|

Protein
ankyrin-2 isoform 26 [Homo sapiens]
ankyrin-2 isoform 26 [Homo sapiens]
gi|1237937928|ref|NP_001341186.1|

Protein
Miconia rigidiuscula (1)
Taxonomy

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001497907	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001497907

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 1, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001497907.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 77 of the ANK2 protein (p.Val77Met). This variant is present in population databases (rs776254819, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1010772). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ANK2 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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