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NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs) AND Cardiomyopathy, dilated, 2D

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 23, 2021
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:
RCV001564045.1

Allele description [Variation Report for NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs)]

NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs)

Gene:
RPL3L:ribosomal protein L3 like [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs)
HGVS:
  • NC_000016.10:g.1945587_1945591del
  • NM_005061.3:c.1076_1080delMANE SELECT
  • NP_005052.1:p.Ala359fs
  • NC_000016.9:g.1995588_1995592del
  • NM_005061.2:c.1076_1080del
Protein change:
A359fs
Links:
dbSNP: rs2150860676
NCBI 1000 Genomes Browser:
rs2150860676
Molecular consequence:
  • NM_005061.3:c.1076_1080del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiomyopathy, dilated, 2D
Identifiers:
MONDO: MONDO:0030300; MedGen: C5543535; OMIM: 619371

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001787138HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 23, 2021) 		paternalresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknown1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001787138.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes: PM2; PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 23, 2024