NM_212533.3(ABCA2):c.96del (p.Phe33fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 1, 2019
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:: RCV001756995.11

Allele description [Variation Report for NM_212533.3(ABCA2):c.96del (p.Phe33fs)]

NM_212533.3(ABCA2):c.96del (p.Phe33fs)

Genes:

ABCA2:ATP binding cassette subfamily A member 2 [Gene - OMIM - HGNC]
LINC02908:long intergenic non-protein coding RNA 2908 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_212533.3(ABCA2):c.96del (p.Phe33fs)

HGVS:

NC_000009.12:g.137028782del
NG_007527.1:g.9064del
NG_011789.1:g.5146del
NG_118350.1:g.505del
NG_118350.2:g.568del
NM_212533.3:c.96del
NP_997698.1:p.Phe33fs
NC_000009.11:g.139923234del
NM_212533.2:c.96del

Protein change:

F33fs

Links:

dbSNP: rs749054833

NCBI 1000 Genomes Browser:

rs749054833

Molecular consequence:

NM_212533.3:c.96del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001995268	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001995268

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 1, 2019)

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, SCV001995268.2

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

Description

Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; No data available from control populations to assess the frequency of this variant

#	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: Apr 20, 2024

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