NM_020987.5(ANK3):c.10749G>A (p.Thr3583=) AND not provided

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

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Nov 5, 2023
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:: RCV002079668.14

Allele description

NM_020987.5(ANK3):c.10749G>A (p.Thr3583=)

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.10749G>A (p.Thr3583=)

HGVS:

NC_000010.11:g.60070132C>T
NG_029917.1:g.668395G>A
NM_001149.4:c.1808-2123G>A
NM_001204403.2:c.4388-2123G>A
NM_001204404.2:c.4409-2123G>A
NM_001320874.2:c.4406-2123G>A
NM_020987.5:c.10749G>AMANE SELECT
NP_066267.2:p.Thr3583=
NC_000010.10:g.61829890C>T

Links:

dbSNP: rs985040592

NCBI 1000 Genomes Browser:

rs985040592

Molecular consequence:

NM_001149.4:c.1808-2123G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001204403.2:c.4388-2123G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001204404.2:c.4409-2123G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001320874.2:c.4406-2123G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_020987.5:c.10749G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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lysophosphatidic acid receptor 1 isoform a [Homo sapiens]
lysophosphatidic acid receptor 1 isoform a [Homo sapiens]
gi|1191017833|ref|NP_001338328.1|

Protein
Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 46, mR...
Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 46, mRNA
gi|1914781981|ref|NM_001387489.1|

Nucleotide
Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 53, mR...
Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 53, mRNA
gi|1914115454|ref|NM_001387496.1|

Nucleotide
Homo sapiens collectin sub-family member 11 (COLEC11), mRNA
Homo sapiens collectin sub-family member 11 (COLEC11), mRNA
gi|34147347|ref|NM_024027.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002427576	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Nov 5, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004033044	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Aug 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002427576

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Nov 5, 2023)

germline

clinical testing

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

SCV004033044

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely benign
(Aug 1, 2023)

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 Invitae, SCV002427576.3

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

#	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, SCV004033044.9

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

Description

ANK3: BP4, BP7

#	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: Aug 4, 2024

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