NM_024598.4(USB1):c.334dup (p.Arg112fs) AND Poikiloderma with neutropenia

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 25, 2024
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:: RCV000598944.4

Allele description [Variation Report for NM_024598.4(USB1):c.334dup (p.Arg112fs)]

NM_024598.4(USB1):c.334dup (p.Arg112fs)

Gene:

USB1:U6 snRNA biogenesis phosphodiesterase 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16q21

Genomic location:

Preferred name:

NM_024598.4(USB1):c.334dup (p.Arg112fs)

HGVS:

NC_000016.10:g.58009997dup
NG_027698.1:g.13625dup
NM_001195302.2:c.334dup
NM_001204911.2:c.334dup
NM_001330568.2:c.181dup
NM_001330569.2:c.334dup
NM_024598.4:c.334dupMANE SELECT
NP_001182231.1:p.Arg112fs
NP_001191840.1:p.Arg112fs
NP_001317497.1:p.Arg61fs
NP_001317498.1:p.Arg112fs
NP_078874.2:p.Arg112fs
LRG_352:g.13625dup
NC_000016.9:g.58043901dup
NM_024598.3:c.334dupC

Protein change:

R112fs

Links:

dbSNP: rs1555498117

NCBI 1000 Genomes Browser:

rs1555498117

Molecular consequence:

NM_001195302.2:c.334dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001204911.2:c.334dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330568.2:c.181dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330569.2:c.334dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024598.4:c.334dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Poikiloderma with neutropenia (PN)
Synonyms:: Poikiloderma with neutropenia Clericuzio type
Identifiers:: MONDO: MONDO:0011405; MedGen: C1858723; Orphanet: 221046; OMIM: 604173

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D006228 (1)
MeSH
Hand Deformities, Congenital
Hand Deformities, Congenital
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.<br/>Year introduced: 1988

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000700245	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004806367	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 25, 2024)	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

SCV000700245

GeneReviews

no classification provided

not provided

germline

literature only

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

SCV004806367

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 25, 2024)

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, literature only

Citations

PubMed

Poikiloderma with Neutropenia.

Wang L, Clericuzio C, Larizza L, Concolino D.

2017 Oct 26 [updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 29072891

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 GeneReviews, SCV000700245.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004806367.1

#	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: Aug 4, 2024

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