NM_020987.5(ANK3):c.12767_12769del (p.Glu4256_Ile4257delinsVal) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002018020.13

Allele description [Variation Report for NM_020987.5(ANK3):c.12767_12769del (p.Glu4256_Ile4257delinsVal)]

NM_020987.5(ANK3):c.12767_12769del (p.Glu4256_Ile4257delinsVal)

Gene:

ANK3:ankyrin 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q21.2

Genomic location:

Preferred name:

NM_020987.5(ANK3):c.12767_12769del (p.Glu4256_Ile4257delinsVal)

HGVS:

NC_000010.11:g.60055954_60055956del
NG_029917.1:g.682571_682573del
NM_001149.4:c.2639_2641del
NM_001204403.2:c.5219_5221del
NM_001204404.2:c.5240_5242del
NM_001320874.2:c.5237_5239del
NM_020987.5:c.12767_12769delMANE SELECT
NP_001140.2:p.Glu880_Ile881delinsVal
NP_001191332.1:p.Glu1740_Ile1741delinsVal
NP_001191333.1:p.Glu1747_Ile1748delinsVal
NP_001307803.1:p.Glu1746_Ile1747delinsVal
NP_066267.2:p.Glu4256_Ile4257delinsVal
NC_000010.10:g.61815712_61815714del

Links:

dbSNP: rs1425594215

NCBI 1000 Genomes Browser:

rs1425594215

Molecular consequence:

NM_001149.4:c.2639_2641del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001204403.2:c.5219_5221del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001204404.2:c.5240_5242del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001320874.2:c.5237_5239del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020987.5:c.12767_12769del - inframe_indel - [Sequence Ontology: SO:0001820]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002300736	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 20, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004811058	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Mar 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002300736

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 20, 2022)

germline

clinical testing

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

SCV004811058

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Mar 1, 2024)

germline

clinical testing

Citation Link

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
not provided	germline	yes	1	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 Labcorp Genetics (formerly Invitae), Labcorp, SCV002300736.3

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

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with ANK3-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.12767_12769del, is a complex sequence change that results in the deletion of two and insertion of one amino acid(s) in the ANK3 protein (p.Glu4256_Ile4257delinsVal).

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004811058.7

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

Description

ANK3: PM2, PM4

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

Last Updated: Oct 20, 2024

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