NM_000350.3(ABCA4):c.2073_2079delinsACCTGGTTCA (p.Ser692_Asn693delinsProGlySer) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 18, 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:: RCV003237006.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.2073_2079delinsACCTGGTTCA (p.Ser692_Asn693delinsProGlySer)]

NM_000350.3(ABCA4):c.2073_2079delinsACCTGGTTCA (p.Ser692_Asn693delinsProGlySer)

Gene:

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

Variant type:

Indel

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_000350.3(ABCA4):c.2073_2079delinsACCTGGTTCA (p.Ser692_Asn693delinsProGlySer)

HGVS:

NC_000001.11:g.94060618_94060624delinsTGAACCAGGT
NG_009073.2:g.65524_65530delinsACCTGGTTCA
NM_000350.3:c.2073_2079delinsACCTGGTTCAMANE SELECT
NM_001425324.1:c.2073_2079delCTCCAATinsACCTGGTTCA
NP_000341.2:p.Ser692_Asn693delinsProGlySer
NP_001412253.1:p.Ser692_Asn693delinsProGlySer
NC_000001.10:g.94526174_94526180delinsTGAACCAGGT
NG_009073.1:g.65526_65532delinsACCTGGTTCA
NM_000350.2:c.2073_2079delinsACCTGGTTCA

Molecular consequence:

NM_000350.3:c.2073_2079delinsACCTGGTTCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001425324.1:c.2073_2079delCTCCAATinsACCTGGTTCA - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV003935373	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003935373

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 18, 2022)

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, SCV003935373.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 2 amino acids and insertion of 3 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Mar 30, 2024

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