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NM_022114.4(PRDM16):c.3142del (p.Leu1048fs) AND PRDM16-related congenital heart disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 18, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003492869.1

Allele description [Variation Report for NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)]

NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)

Gene:
PRDM16:PR/SET domain 16 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.32
Genomic location:
Preferred name:
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)
Other names:
p.Leu1048Trpfs*18
HGVS:
  • NC_000001.11:g.3426083del
  • NG_029576.2:g.361906del
  • NM_022114.4:c.3142delMANE SELECT
  • NM_199454.3:c.3142del
  • NP_071397.3:p.Leu1048fs
  • NP_955533.2:p.Leu1048fs
  • NC_000001.10:g.3342647del
  • NM_022114.4:c.3142delCMANE SELECT
Protein change:
L1048fs
Molecular consequence:
  • NM_022114.4:c.3142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199454.3:c.3142del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
PRDM16-related congenital heart disease
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004242203Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
no assertion criteria provided
Uncertain significance
(Sep 18, 2023)
de novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV004242203.1

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

Last Updated: Feb 14, 2024