NM_020297.4(ABCC9):c.3492_3493del (p.Asp1164fs) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 23, 2023
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:: RCV003984906.2

Allele description [Variation Report for NM_020297.4(ABCC9):c.3492_3493del (p.Asp1164fs)]

NM_020297.4(ABCC9):c.3492_3493del (p.Asp1164fs)

Gene:

ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_020297.4(ABCC9):c.3492_3493del (p.Asp1164fs)

HGVS:

NC_000012.12:g.21838151_21838152del
NG_012819.1:g.103543_103544del
NM_001377273.1:c.3492_3493del
NM_001377274.1:c.2625_2626del
NM_005691.4:c.3492_3493del
NM_020297.4:c.3492_3493delMANE SELECT
NP_001364202.1:p.Asp1164fs
NP_001364203.1:p.Asp875fs
NP_005682.2:p.Asp1164Glufs
NP_005682.2:p.Asp1164fs
NP_064693.2:p.Asp1164Glufs
NP_064693.2:p.Asp1164fs
LRG_377t1:c.3492_3493del
LRG_377t2:c.3492_3493del
LRG_377:g.103543_103544del
LRG_377p1:p.Asp1164Glufs
LRG_377p2:p.Asp1164Glufs
NC_000012.11:g.21991085_21991086del
NM_005691.2:c.3492_3493delCG
NM_020297.2:c.3492_3493delCG

Protein change:

D1164fs

Molecular consequence:

NM_001377273.1:c.3492_3493del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377274.1:c.2625_2626del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005691.4:c.3492_3493del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_020297.4:c.3492_3493del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Dilated cardiomyopathy 1O (CMD1O)
Synonyms:: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
Identifiers:: MONDO: MONDO:0012062; MedGen: C1837839; Orphanet: 154; OMIM: 608569

Name:: Atrial fibrillation, familial, 12 (ATFB12)
Identifiers:: MONDO: MONDO:0013545; MedGen: C3279695; OMIM: 614050

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Enterobacteriaceae bacterium strain Ab.194 RS 16S ribosomal RNA gene, partial se...
Enterobacteriaceae bacterium strain Ab.194 RS 16S ribosomal RNA gene, partial sequence
gi|2809223507|gb|PQ373107.1|

Nucleotide
Polyradiculopathy
Polyradiculopathy
Disease or injury involving multiple SPINAL NERVE ROOTS. Polyradiculitis refers to inflammation of multiple spinal nerve roots.<br/>Year introduced: 2000(1966)

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004801021	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Uncertain significance (Jun 23, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004801021

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Uncertain significance
(Jun 23, 2023)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004801021.1

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

Description

PVS1_MOD,PM2_SUP

#	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: Jun 2, 2024

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