NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs) AND Atrial septal defect 7

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000144178.2

Allele description [Variation Report for NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs)]

NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs)

Gene:

NKX2-5:NK2 homeobox 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q35.1

Genomic location:

Preferred name:

NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs)

HGVS:

NC_000005.10:g.173232816_173232823del
NG_013340.1:g.7490_7497del
NM_001166175.2:c.*674_*681del
NM_001166176.2:c.*520_*527del
NM_004387.4:c.721_728delMANE SELECT
NP_004378.1:p.Tyr241fs
LRG_671t1:c.721_728del
LRG_671:g.7490_7497del
LRG_671p1:p.Tyr241fs
NC_000005.9:g.172659819_172659826del
NC_000005.9:g.172659819_172659826delACGCCGTA

Protein change:

Y241fs

Links:

dbSNP: rs587782930

NCBI 1000 Genomes Browser:

rs587782930

Molecular consequence:

NM_001166175.2:c.*674_*681del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001166176.2:c.*520_*527del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004387.4:c.721_728del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Atrial septal defect 7
Synonyms:: Atrial septal defect with atrioventricular conduction defects; ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect 7 with or without atrioventricular conduction defects; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007173; MedGen: C3276096; Orphanet: 1479; OMIM: 108900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000188642	Nemer Genomics and Translation Biomedicine Lab, American University of Beirut	no assertion criteria provided	Pathogenic (Jan 1, 2014)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000188642

Nemer Genomics and Translation Biomedicine Lab, American University of Beirut

no assertion criteria provided

Pathogenic
(Jan 1, 2014)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Causasians	germline	yes	11	not provided	not provided	188	yes	research

Details of each submission

From Nemer Genomics and Translation Biomedicine Lab, American University of Beirut, SCV000188642.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Causasians	11	not provided	yes	research	not provided

Description

The number of individuals with the variant reflects the total number of individuals within the family.

Description

Sudden cardiac death risk with previously attributed Familial Atrial Septal defect Secundum type with progressive atrioventricular block

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	188	not provided	not provided		11	not provided	1	not provided

Last Updated: May 27, 2022

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