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NM_022114.4(PRDM16):c.3352G>A (p.Val1118Met) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 2019
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:
RCV001281476.1

Allele description

NM_022114.4(PRDM16):c.3352G>A (p.Val1118Met)

Gene:
PRDM16:PR/SET domain 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.32
Genomic location:
Preferred name:
NM_022114.4(PRDM16):c.3352G>A (p.Val1118Met)
HGVS:
  • NC_000001.11:g.3430939G>A
  • NG_029576.2:g.366762G>A
  • NM_022114.4:c.3352G>AMANE SELECT
  • NM_199454.3:c.3352G>A
  • NP_071397.3:p.Val1118Met
  • NP_955533.2:p.Val1118Met
  • NC_000001.10:g.3347503G>A
  • NG_029576.1:g.366762G>A
  • NM_022114.3:c.3352G>A
Protein change:
V1118M
Links:
dbSNP: rs542279737
NCBI 1000 Genomes Browser:
rs542279737
Molecular consequence:
  • NM_022114.4:c.3352G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199454.3:c.3352G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001468784New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jul 11, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001468784.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024