NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Nov 12, 2015
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:: RCV000085436.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu)]

NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu)

HGVS:

NC_000001.11:g.94062661C>T
NG_009073.1:g.63489G>A
NG_009073.2:g.63487G>A
NM_000350.3:c.1853G>AMANE SELECT
NM_001425324.1:c.1853G>A
NP_000341.2:p.Gly618Glu
NP_001412253.1:p.Gly618Glu
NC_000001.10:g.94528217C>T
NM_000350.2:c.1853G>A

Protein change:

G618E

Links:

dbSNP: rs61751394

NCBI 1000 Genomes Browser:

rs61751394

Molecular consequence:

NM_000350.3:c.1853G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001425324.1:c.1853G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000117573	Retina International	no classification provided	not provided	not provided	not provided
SCV000564520	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Nov 12, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000117573

Retina International

no classification provided

not provided

SCV000564520

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Nov 12, 2015)

germline

clinical testing

Citation Link

Description

http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_ABCR:c.1853G>A: SCV000117573

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
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Retina International, SCV000117573.1

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

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

From GeneDx, SCV000564520.4

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

Description

The G618E missense variant in the ABCA4 gene has been reported previously in association with Cone-rod dystrophy (Klevering et al., 2004), The G618E variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in the same (G618R/W) and nearby residues (E616K, Q623R) have been reported in the Human Gene Mutation Database in association with ABCA4-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

#	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: Nov 3, 2024

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