NM_005502.4(ABCA1):c.*1466dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: May 15, 2021
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:: RCV001614156.3

Allele description [Variation Report for NM_005502.4(ABCA1):c.*1466dup]

NM_005502.4(ABCA1):c.*1466dup

Genes:

ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
NIPSNAP3B:nipsnap homolog 3B [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9q31.1

Genomic location:

Preferred name:

NM_005502.4(ABCA1):c.*1466dup

HGVS:

NC_000009.12:g.104782865dup
NG_007981.1:g.150307dup
NM_005502.4:c.*1466dupMANE SELECT
LRG_542t1:c.*1466dup
LRG_542:g.150307dup
NC_000009.11:g.107545146dup

Links:

dbSNP: rs200463326

NCBI 1000 Genomes Browser:

rs200463326

Molecular consequence:

NM_005502.4:c.*1466dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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LOC126806689 [Homo sapiens]
LOC126806689 [Homo sapiens]
Gene ID:126806689

Gene
Tooth Root
Tooth Root
The part of a tooth from the neck to the apex, embedded in the alveolar process and covered with cementum. A root may be single or divided into several branches, usually ident...<br/>Year introduced: 1965

MeSH
Stomatognathic System
Stomatognathic System
The mouth, teeth, jaws, pharynx, and related structures as they relate to mastication, deglutition, and speech.<br/>Year introduced: 1986

MeSH
Tooth Germ
Tooth Germ
The collective tissues from which an entire tooth is formed, including the DENTAL SAC; ENAMEL ORGAN; and DENTAL PAPILLA. (From Jablonski, Dictionary of Dentistry, 1992)...<br/>

MeSH
Dentition, Permanent
Dentition, Permanent
The 32 teeth of adulthood that either replace or are added to the complement of deciduous teeth. (Boucher's Clinical Dental Terminology, 4th ed)<br/>Year introduced: 1997

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001837529	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (May 15, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001837529

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(May 15, 2021)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001837529.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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