NM_024598.4(USB1):c.267T>A (p.Tyr89Ter) AND Poikiloderma with neutropenia

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000599513.2

Allele description [Variation Report for NM_024598.4(USB1):c.267T>A (p.Tyr89Ter)]

NM_024598.4(USB1):c.267T>A (p.Tyr89Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

Preferred name:

NM_024598.4(USB1):c.267T>A (p.Tyr89Ter)

HGVS:

NC_000016.10:g.58009930T>A
NG_027698.1:g.13558T>A
NM_001195302.2:c.267T>A
NM_001204911.2:c.267T>A
NM_001330568.2:c.114T>A
NM_001330569.2:c.267T>A
NM_024598.4:c.267T>AMANE SELECT
NP_001182231.1:p.Tyr89Ter
NP_001191840.1:p.Tyr89Ter
NP_001317497.1:p.Tyr38Ter
NP_001317498.1:p.Tyr89Ter
NP_078874.2:p.Tyr89Ter
NP_078874.2:p.Tyr89Ter
LRG_352t1:c.267T>A
LRG_352:g.13558T>A
LRG_352p1:p.Tyr89Ter
NC_000016.9:g.58043834T>A
NM_024598.3:c.267T>A

Protein change:

Y38*

Links:

dbSNP: rs771096742

NCBI 1000 Genomes Browser:

rs771096742

Molecular consequence:

NM_001195302.2:c.267T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001204911.2:c.267T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001330568.2:c.114T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001330569.2:c.267T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_024598.4:c.267T>A - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000700244	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000700244

GeneReviews

no classification provided

not provided

germline

literature only

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	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

Details of each submission

From GeneReviews, SCV000700244.2

#	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

Last Updated: Oct 8, 2022

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