NM_022114.4(PRDM16):c.3142del (p.Leu1048fs) AND Left ventricular noncompaction 8

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 21, 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:: RCV003333648.1

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]

Condition(s)

Name:: Left ventricular noncompaction 8 (LVNC8)
Identifiers:: MONDO: MONDO:0014152; MedGen: C3809288; Orphanet: 154; Orphanet: 54260; OMIM: 615373

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004041462	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 21, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004041462

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 21, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Baylor Genetics, SCV004041462.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 14, 2024

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