NM_016955.4(SEPSECS):c.*236_*237insTTT AND Pontoneocerebellar hypoplasia

NM_016955.4(SEPSECS):c.236_237insTTT AND Pontoneocerebellar hypoplasia

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000334763.5

Allele description [Variation Report for NM_016955.4(SEPSECS):c.236_237insTTT]

NM_016955.4(SEPSECS):c.236_237insTTT

Gene:

SEPSECS:Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

4p15.2

Genomic location:

Preferred name:

NM_016955.4(SEPSECS):c.*236_*237insTTT

HGVS:

NC_000004.12:g.25123696_25123697insAAA
NG_028222.1:g.41888_41889insTTT
NM_016955.4:c.*236_*237insTTTMANE SELECT
NC_000004.11:g.25125318_25125319insAAA
NM_016955.3:c.*236_*237insTTT

Links:

dbSNP: rs140928773

NCBI 1000 Genomes Browser:

rs140928773

Molecular consequence:

NM_016955.4:c.*236_*237insTTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Pontoneocerebellar hypoplasia
Synonyms:: Pontocerebellar hypoplasia; Non-syndromic pontocerebellar hypoplasia
Identifiers:: MONDO: MONDO:0020135; MedGen: C1261175; Orphanet: 98523; OMIM: PS607596

Recent activity

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zinc finger protein 586 isoform b [Homo sapiens]
zinc finger protein 586 isoform b [Homo sapiens]
gi|116812602|ref|NP_001070894.1|

Protein
NAD(P)H dehydrogenase, quinone 2 [Homo sapiens]
NAD(P)H dehydrogenase, quinone 2 [Homo sapiens]
gi|4505417|ref|NP_000895.1|

Protein
Fv6 Friend virus susceptibility 6 [Mus musculus]
Fv6 Friend virus susceptibility 6 [Mus musculus]
Gene ID:107451

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000449167	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000449167

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000449167.2

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

#	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: Apr 9, 2023

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