NM_020297.4(ABCC9):c.4512+711G>A AND not provided

Germline classification:: Uncertain significance (5 submissions)
Last evaluated:: Mar 13, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001311294.28

Allele description [Variation Report for NM_020297.4(ABCC9):c.4512+711G>A]

NM_020297.4(ABCC9):c.4512+711G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_020297.4(ABCC9):c.4512+711G>A

HGVS:

NC_000012.12:g.21805287C>T
NG_012819.1:g.136408G>A
NM_001377273.1:c.4512+711G>A
NM_001377274.1:c.3645+711G>A
NM_005691.2:c.4537G>A
NM_005691.4:c.4537G>A
NM_020297.4:c.4512+711G>AMANE SELECT
NP_005682.2:p.Ala1513Thr
NP_005682.2:p.Ala1513Thr
LRG_377t2:c.4537G>A
LRG_377:g.136408G>A
NC_000012.11:g.21958221C>T
NM_005691.3:c.4537G>A

Protein change:

A1513T

Links:

dbSNP: rs72559751

NCBI 1000 Genomes Browser:

rs72559751

Molecular consequence:

NM_001377273.1:c.4512+711G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377274.1:c.3645+711G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_020297.4:c.4512+711G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_005691.4:c.4537G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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probable ATP-dependent RNA helicase DDX4 isoform X1 [Homo sapiens]
probable ATP-dependent RNA helicase DDX4 isoform X1 [Homo sapiens]
gi|2462603035|ref|XP_054208812.1|

Protein
xj40g07.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2659740 3', mRNA se...
xj40g07.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2659740 3', mRNA sequence
gi|6450871|gnl|dbEST|3527298|gb|AW1 .1|

Nucleotide
Model organism or animal sample from Ovis aries
Model organism or animal sample from Ovis aries

biosample
Acer pseudoplatanus voucher Aps_0801 RNA polymerase C (rpoC1) gene, partial cds;...
Acer pseudoplatanus voucher Aps_0801 RNA polymerase C (rpoC1) gene, partial cds; chloroplast
gi|1002153270|gb|KU549934.1|

Nucleotide
regulator of G-protein signaling 11 isoform X8 [Homo sapiens]
regulator of G-protein signaling 11 isoform X8 [Homo sapiens]
gi|767987790|ref|XP_011521025.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001501406	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Sep 1, 2020)	germline	clinical testing	Citation Link,
SCV001743412	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely pathogenic	germline	clinical testing
SCV001804782	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 13, 2023)	germline	clinical testing	Citation Link,
SCV001930368	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely pathogenic	germline	clinical testing
SCV001973089	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely pathogenic	germline	clinical testing

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 CeGaT Center for Human Genetics Tuebingen, SCV001501406.23

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

#	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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001743412.3

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

#	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

From GeneDx, SCV001804782.2

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

Description

Identified in an individual with a personal and family history of idiopathic dilated cardiomyopathy; the variant was not present in the unaffected parent but DNA was not available from the affected parent to confirm segregation with disease (Bienengraeber et al., 2004); Reported as an incidental finding in a fetus with multiple congenital anomalies; the variant was paternally inherited and the father was informed he should have a cardiology exam (Corsten-Janssen et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; Published functional studies show abnormal channel gating, suggesting that this variant affects ATP-dependent pore regulation (Bienengraeber et al., 2004); however, additional studies are needed to clarify the effect of this variant in vivo; Reported using an alternate transcript of the gene; This variant is associated with the following publications: (PMID: 15034580, 34076677, 32627857)

#	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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001930368.1

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

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001973089.1

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

#	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: Oct 20, 2024

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