NM_015971.4(MRPS7):c.83+22dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 23, 2020
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:: RCV001752964.11

Allele description [Variation Report for NM_015971.4(MRPS7):c.83+22dup]

NM_015971.4(MRPS7):c.83+22dup

Genes:

GGA3:golgi associated, gamma adaptin ear containing, ARF binding protein 3 [Gene - OMIM - HGNC]
MRPS7:mitochondrial ribosomal protein S7 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_015971.4(MRPS7):c.83+22dup

HGVS:

NC_000017.11:g.75262005dup
NG_139409.1:g.318dup
NG_139409.2:g.524dup
NM_001172703.3:c.-177+278dup
NM_001172704.3:c.-228+278dup
NM_015971.4:c.83+22dupMANE SELECT
NC_000017.10:g.73258086dup

Links:

dbSNP: rs200739528

NCBI 1000 Genomes Browser:

rs200739528

Molecular consequence:

NM_001172703.3:c.-177+278dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001172704.3:c.-228+278dup - intron variant - [Sequence Ontology: SO:0001627]
NM_015971.4:c.83+22dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Saccharopolyspora sp. 08-St-011 16S ribosomal RNA gene, partial sequence
Saccharopolyspora sp. 08-St-011 16S ribosomal RNA gene, partial sequence
gi|292596473|gb|GU574156.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002006411	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jan 23, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002006411

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jan 23, 2020)

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, SCV002006411.2

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

Last Updated: Nov 10, 2024

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