NM_033238.3(PML):c.929_941dup (p.Ser314fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 2, 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:: RCV003488289.2

Allele description [Variation Report for NM_033238.3(PML):c.929_941dup (p.Ser314fs)]

NM_033238.3(PML):c.929_941dup (p.Ser314fs)

Gene:

PML:PML nuclear body scaffold [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_033238.3(PML):c.929_941dup (p.Ser314fs)

HGVS:

NC_000015.10:g.74023154_74023166dup
NG_029036.1:g.33482_33494dup
NM_002675.4:c.929_941dup
NM_033238.3:c.929_941dupMANE SELECT
NM_033239.3:c.929_941dup
NM_033240.3:c.929_941dup
NM_033242.2:c.929_941dup
NM_033244.4:c.929_941dup
NM_033245.2:c.929_941dup
NM_033246.3:c.929_941dup
NM_033247.3:c.929_941dup
NM_033249.3:c.929_941dup
NM_033250.3:c.929_941dup
NP_002666.1:p.Ser314fs
NP_150241.2:p.Ser314fs
NP_150242.1:p.Ser314fs
NP_150243.2:p.Ser314fs
NP_150245.2:p.Ser314Argfs
NP_150247.2:p.Ser314fs
NP_150248.1:p.Ser314Argfs
NP_150249.1:p.Ser314fs
NP_150250.2:p.Ser314fs
NP_150252.1:p.Ser314fs
NP_150253.2:p.Ser314fs
LRG_1069t1:c.929_941dup
LRG_1069:g.33482_33494dup
LRG_1069p1:p.Ser314fs
NC_000015.9:g.74315495_74315507dup

Protein change:

S314fs

Molecular consequence:

NM_002675.4:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033238.3:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033239.3:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033240.3:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033242.2:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033244.4:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033245.2:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033246.3:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033247.3:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033249.3:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033250.3:c.929_941dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004236188	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 2, 2021)	germline	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

SCV004236188

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 2, 2021)

germline

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	germline	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 Revvity Omics, Revvity, SCV004236188.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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