NM_000350.3(ABCA4):c.2785dup (p.Val929fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 22, 2022
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:: RCV002648174.3

Allele description [Variation Report for NM_000350.3(ABCA4):c.2785dup (p.Val929fs)]

NM_000350.3(ABCA4):c.2785dup (p.Val929fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_000350.3(ABCA4):c.2785dup (p.Val929fs)

HGVS:

NC_000001.11:g.94047055dup
NG_009073.1:g.79098dup
NG_009073.2:g.79096dup
NM_000350.3:c.2785dupMANE SELECT
NM_001425324.1:c.2560dup
NP_000341.2:p.Val929fs
NP_001412253.1:p.Val855Glyfs
NC_000001.10:g.94512607_94512608insC
NC_000001.10:g.94512611dup

Protein change:

V929fs

Molecular consequence:

NM_000350.3:c.2785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425324.1:c.2560dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Homo sapiens cDNA FLJ42078 fis, clone SYNOV2020085
Homo sapiens cDNA FLJ42078 fis, clone SYNOV2020085
gi|34529770|dbj|AK124072.1|

Nucleotide
Sr_rh_Cy01
Sr_rh_Cy01

biosample
229474[uid] AND (alive[prop]) (1)
Gene
Fhdc1 FH2 domain containing 1 [Mus musculus]
Fhdc1 FH2 domain containing 1 [Mus musculus]
Gene ID:229474

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003523424	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jun 22, 2022)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 25097241, 31212395, 10958761, 24938718, 25312043, 26780318, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003523424

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jun 22, 2022)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

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

Citations

PubMed

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ.

Invest Ophthalmol Vis Sci. 2014 Aug 5;55(10):6213-23. doi: 10.1167/iovs.14-14936.

PubMed [citation]

PMID:: 25097241

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, Stöhr H, Grassmann F, Weber BHF, Dhaenens CM, Cremers FPM.

Hum Mutat. 2019 Oct;40(10):1749-1759. doi: 10.1002/humu.23787. Epub 2019 Jun 18.

PubMed [citation]

PMID:: 31212395

See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003523424.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with ABCA4-related conditions (PMID: 25097241, 31212395). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val929Glyfs*11) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318).

#	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

Last Updated: Sep 29, 2024

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