U.S. flag

An official website of the United States government

NM_020987.5(ANK3):c.10741G>A (p.Asp3581Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 2016
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:
RCV000414611.1

Allele description [Variation Report for NM_020987.5(ANK3):c.10741G>A (p.Asp3581Asn)]

NM_020987.5(ANK3):c.10741G>A (p.Asp3581Asn)

Gene:
ANK3:ankyrin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.2
Genomic location:
Preferred name:
NM_020987.5(ANK3):c.10741G>A (p.Asp3581Asn)
HGVS:
  • NC_000010.11:g.60070140C>T
  • NG_029917.1:g.668387G>A
  • NM_001149.4:c.1808-2131G>A
  • NM_001204403.2:c.4388-2131G>A
  • NM_001204404.2:c.4409-2131G>A
  • NM_001320874.2:c.4406-2131G>A
  • NM_020987.5:c.10741G>AMANE SELECT
  • NP_066267.2:p.Asp3581Asn
  • NC_000010.10:g.61829898C>T
  • NM_020987.3:c.10741G>A
Protein change:
D3581N
Links:
dbSNP: rs1057518261
NCBI 1000 Genomes Browser:
rs1057518261
Molecular consequence:
  • NM_001149.4:c.1808-2131G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204403.2:c.4388-2131G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204404.2:c.4409-2131G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320874.2:c.4406-2131G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020987.5:c.10741G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491734GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 29, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491734.1

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

Description

The D3581N variant in the ANK3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D3581N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on currently available evidence, we interpret D3581N as a variant of uncertain significance.

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

Last Updated: Apr 23, 2022