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NM_001134363.3(RBM20):c.2153T>C (p.Leu718Pro) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 15, 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:
RCV004025728.1

Allele description [Variation Report for NM_001134363.3(RBM20):c.2153T>C (p.Leu718Pro)]

NM_001134363.3(RBM20):c.2153T>C (p.Leu718Pro)

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.2153T>C (p.Leu718Pro)
HGVS:
  • NC_000010.11:g.110812550T>C
  • NG_021177.1:g.173154T>C
  • NM_001134363.1:c.2153T>C
  • NM_001134363.3:c.2153T>CMANE SELECT
  • NP_001127835.2:p.Leu718Pro
  • LRG_382t1:c.2153T>C
  • LRG_382:g.173154T>C
  • NC_000010.10:g.112572308T>C
  • NM_001134363.2:c.2153T>C
Protein change:
L718P
Links:
dbSNP: rs567017513
NCBI 1000 Genomes Browser:
rs567017513
Molecular consequence:
  • NM_001134363.3:c.2153T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003902820Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 15, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003902820.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2153T>C (p.L718P) alteration is located in exon 9 (coding exon 9) of the RBM20 gene. This alteration results from a T to C substitution at nucleotide position 2153, causing the leucine (L) at amino acid position 718 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024