NM_153485.3(NUP155):c.2903+84_2903+86dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: May 14, 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:: RCV001539304.2

Allele description [Variation Report for NM_153485.3(NUP155):c.2903+84_2903+86dup]

NM_153485.3(NUP155):c.2903+84_2903+86dup

Gene:

NUP155:nucleoporin 155 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5p13.2

Genomic location:

Preferred name:

NM_153485.3(NUP155):c.2903+84_2903+86dup

HGVS:

NC_000005.10:g.37307211_37307213dup
NG_034131.1:g.68927_68929dup
NM_001278312.2:c.2711+84_2711+86dup
NM_004298.4:c.2726+84_2726+86dup
NM_153485.3:c.2903+84_2903+86dupMANE SELECT
NC_000005.9:g.37307313_37307315dup

Links:

dbSNP: rs34995492

NCBI 1000 Genomes Browser:

rs34995492

Molecular consequence:

NM_001278312.2:c.2711+84_2711+86dup - intron variant - [Sequence Ontology: SO:0001627]
NM_004298.4:c.2726+84_2726+86dup - intron variant - [Sequence Ontology: SO:0001627]
NM_153485.3:c.2903+84_2903+86dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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MIGS Eukaryotic sample from Aphanomyces astaci
MIGS Eukaryotic sample from Aphanomyces astaci

biosample
Aphanomyces invadans strain NJM0002, whole genome shotgun sequencing project
Aphanomyces invadans strain NJM0002, whole genome shotgun sequencing project
gi|1475149924|gb|QUSY00000000.1|QUS 0000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001757061	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (May 14, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001757061

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(May 14, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001757061.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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