NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 26, 2018
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:: RCV002422150.2

Allele description [Variation Report for NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)]

NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)

Gene:

RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

Preferred name:

NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)

HGVS:

NC_000010.11:g.110812468G>A
NG_021177.1:g.173072G>A
NM_001134363.2:c.2071G>A
NM_001134363.3:c.2071G>AMANE SELECT
NP_001127835.1:p.Ala691Thr
NP_001127835.2:p.Ala691Thr
LRG_382t1:c.2071G>A
LRG_382:g.173072G>A
LRG_382p1:p.Ala691Thr
NC_000010.10:g.112572226G>A
NM_001134363.1:c.2071G>A

Protein change:

A691T

Molecular consequence:

NM_001134363.3:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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Mus musculus GLIS family zinc finger 3 (Glis3), mRNA
Mus musculus GLIS family zinc finger 3 (Glis3), mRNA
gi|142344155|ref|NM_175459.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002729779	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 26, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002729779

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 26, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002729779.2

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

Description

The p.A691T variant (also known as c.2071G>A), located in coding exon 9 of the RBM20 gene, results from a G to A substitution at nucleotide position 2071. The alanine at codon 691 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and threonine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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