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NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 9, 2022
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:
RCV004020030.1

Allele description [Variation Report for NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg)]

NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg)
Other names:
p.G3871R:GGA>AGA
HGVS:
  • NC_000004.12:g.113373090G>A
  • NG_009006.2:g.560008G>A
  • NM_001127493.3:c.5329G>A
  • NM_001148.6:c.11611G>AMANE SELECT
  • NM_001354225.2:c.5368G>A
  • NM_001354228.2:c.5350G>A
  • NM_001354230.2:c.5335G>A
  • NM_001354231.2:c.5491G>A
  • NM_001354232.2:c.5485G>A
  • NM_001354235.2:c.5446G>A
  • NM_001354236.2:c.5254G>A
  • NM_001354237.2:c.5434G>A
  • NM_001354239.2:c.5419G>A
  • NM_001354240.2:c.5401G>A
  • NM_001354241.2:c.5401G>A
  • NM_001354242.2:c.5398G>A
  • NM_001354243.2:c.5386G>A
  • NM_001354244.2:c.5383G>A
  • NM_001354245.2:c.5194G>A
  • NM_001354246.2:c.5353G>A
  • NM_001354249.2:c.5170G>A
  • NM_001354252.2:c.5326G>A
  • NM_001354253.2:c.5131G>A
  • NM_001354254.2:c.5305G>A
  • NM_001354255.2:c.5293G>A
  • NM_001354256.2:c.5290G>A
  • NM_001354257.2:c.5095G>A
  • NM_001354258.2:c.5257G>A
  • NM_001354260.2:c.5071G>A
  • NM_001354261.2:c.5215G>A
  • NM_001354262.2:c.5194G>A
  • NM_001354264.2:c.5191G>A
  • NM_001354265.2:c.5353G>A
  • NM_001354266.2:c.5170G>A
  • NM_001354267.2:c.5170G>A
  • NM_001354268.2:c.5158G>A
  • NM_001354269.3:c.5143G>A
  • NM_001354270.2:c.5131G>A
  • NM_001354271.2:c.5071G>A
  • NM_001354272.2:c.5227G>A
  • NM_001354273.2:c.5056G>A
  • NM_001354274.2:c.5215G>A
  • NM_001354275.2:c.5194G>A
  • NM_001354276.2:c.5170G>A
  • NM_001354277.2:c.4972G>A
  • NM_001354278.2:c.2884G>A
  • NM_001354279.2:c.2920G>A
  • NM_001354280.2:c.2905G>A
  • NM_001354281.2:c.2884G>A
  • NM_001354282.2:c.2920G>A
  • NM_001386142.1:c.11377G>A
  • NM_001386143.1:c.5386G>A
  • NM_001386144.1:c.5494G>A
  • NM_001386146.1:c.5230G>A
  • NM_001386147.1:c.5182G>A
  • NM_001386148.2:c.5341G>A
  • NM_001386149.1:c.5137G>A
  • NM_001386150.1:c.5230G>A
  • NM_001386151.1:c.5164G>A
  • NM_001386152.1:c.5412+3285G>A
  • NM_001386153.1:c.5137G>A
  • NM_001386154.1:c.5122G>A
  • NM_001386156.1:c.5095G>A
  • NM_001386157.1:c.4972G>A
  • NM_001386158.1:c.4873G>A
  • NM_001386160.1:c.5200G>A
  • NM_001386161.1:c.5290G>A
  • NM_001386162.1:c.5170G>A
  • NM_001386166.1:c.8011G>A
  • NM_001386167.1:c.1849G>A
  • NM_001386174.1:c.11845G>A
  • NM_001386175.1:c.11821G>A
  • NM_001386186.2:c.5341G>A
  • NM_001386187.2:c.5221G>A
  • NM_020977.5:c.5356G>A
  • NP_001120965.1:p.Gly1777Arg
  • NP_001139.3:p.Gly3871Arg
  • NP_001341154.1:p.Gly1790Arg
  • NP_001341157.1:p.Gly1784Arg
  • NP_001341159.1:p.Gly1779Arg
  • NP_001341160.1:p.Gly1831Arg
  • NP_001341161.1:p.Gly1829Arg
  • NP_001341164.1:p.Gly1816Arg
  • NP_001341165.1:p.Gly1752Arg
  • NP_001341166.1:p.Gly1812Arg
  • NP_001341168.1:p.Gly1807Arg
  • NP_001341169.1:p.Gly1801Arg
  • NP_001341170.1:p.Gly1801Arg
  • NP_001341171.1:p.Gly1800Arg
  • NP_001341172.1:p.Gly1796Arg
  • NP_001341173.1:p.Gly1795Arg
  • NP_001341174.1:p.Gly1732Arg
  • NP_001341175.1:p.Gly1785Arg
  • NP_001341178.1:p.Gly1724Arg
  • NP_001341181.1:p.Gly1776Arg
  • NP_001341182.1:p.Gly1711Arg
  • NP_001341183.1:p.Gly1769Arg
  • NP_001341184.1:p.Gly1765Arg
  • NP_001341185.1:p.Gly1764Arg
  • NP_001341186.1:p.Gly1699Arg
  • NP_001341187.1:p.Gly1753Arg
  • NP_001341189.1:p.Gly1691Arg
  • NP_001341190.1:p.Gly1739Arg
  • NP_001341191.1:p.Gly1732Arg
  • NP_001341193.1:p.Gly1731Arg
  • NP_001341194.1:p.Gly1785Arg
  • NP_001341195.1:p.Gly1724Arg
  • NP_001341196.1:p.Gly1724Arg
  • NP_001341197.1:p.Gly1720Arg
  • NP_001341198.1:p.Gly1715Arg
  • NP_001341199.1:p.Gly1711Arg
  • NP_001341200.1:p.Gly1691Arg
  • NP_001341201.1:p.Gly1743Arg
  • NP_001341202.1:p.Gly1686Arg
  • NP_001341203.1:p.Gly1739Arg
  • NP_001341204.1:p.Gly1732Arg
  • NP_001341205.1:p.Gly1724Arg
  • NP_001341206.1:p.Gly1658Arg
  • NP_001341207.1:p.Gly962Arg
  • NP_001341208.1:p.Gly974Arg
  • NP_001341209.1:p.Gly969Arg
  • NP_001341210.1:p.Gly962Arg
  • NP_001341211.1:p.Gly974Arg
  • NP_001373071.1:p.Gly3793Arg
  • NP_001373072.1:p.Gly1796Arg
  • NP_001373073.1:p.Gly1832Arg
  • NP_001373075.1:p.Gly1744Arg
  • NP_001373076.1:p.Gly1728Arg
  • NP_001373077.1:p.Gly1781Arg
  • NP_001373078.1:p.Gly1713Arg
  • NP_001373079.1:p.Gly1744Arg
  • NP_001373080.1:p.Gly1722Arg
  • NP_001373082.1:p.Gly1713Arg
  • NP_001373083.1:p.Gly1708Arg
  • NP_001373085.1:p.Gly1699Arg
  • NP_001373086.1:p.Gly1658Arg
  • NP_001373087.1:p.Gly1625Arg
  • NP_001373089.1:p.Gly1734Arg
  • NP_001373090.1:p.Gly1764Arg
  • NP_001373091.1:p.Gly1724Arg
  • NP_001373095.1:p.Gly2671Arg
  • NP_001373096.1:p.Gly617Arg
  • NP_001373103.1:p.Gly3949Arg
  • NP_001373104.1:p.Gly3941Arg
  • NP_001373115.1:p.Gly1781Arg
  • NP_001373116.1:p.Gly1741Arg
  • NP_066187.2:p.Gly1786Arg
  • LRG_327t1:c.11611G>A
  • LRG_327:g.560008G>A
  • NC_000004.11:g.114294246G>A
  • NM_001148.4:c.11611G>A
Protein change:
G1625R
Links:
dbSNP: rs786205729
NCBI 1000 Genomes Browser:
rs786205729
Molecular consequence:
  • NM_001386152.1:c.5412+3285G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127493.3:c.5329G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001148.6:c.11611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354225.2:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354228.2:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354230.2:c.5335G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354231.2:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354232.2:c.5485G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354235.2:c.5446G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354236.2:c.5254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354237.2:c.5434G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354239.2:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354240.2:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354241.2:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354242.2:c.5398G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354243.2:c.5386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354244.2:c.5383G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354245.2:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354246.2:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354249.2:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354252.2:c.5326G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354253.2:c.5131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354254.2:c.5305G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354255.2:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354256.2:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354257.2:c.5095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354258.2:c.5257G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354260.2:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354261.2:c.5215G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354262.2:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354264.2:c.5191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354265.2:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354266.2:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354267.2:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354268.2:c.5158G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354269.3:c.5143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354270.2:c.5131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354271.2:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354272.2:c.5227G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354273.2:c.5056G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354274.2:c.5215G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354275.2:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354276.2:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354277.2:c.4972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354278.2:c.2884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354279.2:c.2920G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354280.2:c.2905G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354281.2:c.2884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354282.2:c.2920G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386142.1:c.11377G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386143.1:c.5386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386144.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386146.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386147.1:c.5182G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386148.2:c.5341G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386149.1:c.5137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386150.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386151.1:c.5164G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386153.1:c.5137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386154.1:c.5122G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386156.1:c.5095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386157.1:c.4972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386158.1:c.4873G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386160.1:c.5200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386161.1:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386162.1:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386166.1:c.8011G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386167.1:c.1849G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386174.1:c.11845G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386175.1:c.11821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386186.2:c.5341G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386187.2:c.5221G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020977.5:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005016740Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 9, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, et al.

Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.

PubMed [citation]
PMID:
28191889
PMCID:
PMC5374041

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, et al.

Nat Commun. 2020 Oct 1;11(1):4932. doi: 10.1038/s41467-020-18723-y. Erratum in: Nat Commun. 2020 Oct 21;11(1):5398. doi: 10.1038/s41467-020-19289-5.

PubMed [citation]
PMID:
33004838
PMCID:
PMC7530681

Details of each submission

From Ambry Genetics, SCV005016740.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.G3871R variant (also known as c.11611G>A) is located in coding exon 44 of the ANK2 gene. The glycine at codon 3871 is replaced by arginine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 44. This variant has been detected in an autism spectrum disorders cohort; however, details were limited (Stessman HA et al. Nat Genet, 2017 Apr;49:515-526). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024