NM_000350.3(ABCA4):c.2040del (p.Leu680fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2020
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:: RCV001312083.22

Allele description [Variation Report for NM_000350.3(ABCA4):c.2040del (p.Leu680fs)]

NM_000350.3(ABCA4):c.2040del (p.Leu680fs)

Gene:

ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_000350.3(ABCA4):c.2040del (p.Leu680fs)

HGVS:

NC_000001.11:g.94060657del
NG_009073.1:g.65493del
NG_009073.2:g.65491del
NM_000350.3:c.2040delMANE SELECT
NM_001425324.1:c.2040delG
NP_000341.2:p.Leu680fs
NP_001412253.1:p.Leu680Phefs
NC_000001.10:g.94526213del

Protein change:

L680fs

Links:

dbSNP: rs1661097693

NCBI 1000 Genomes Browser:

rs1661097693

Molecular consequence:

NM_000350.3:c.2040del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425324.1:c.2040delG - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Mus musculus schlafen 8 (Slfn8), mRNA
Mus musculus schlafen 8 (Slfn8), mRNA
gi|31559802|ref|NM_181545.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001502526	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jul 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001502526

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Pathogenic
(Jul 1, 2020)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001502526.23

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

Last Updated: Oct 20, 2024

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