NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 3, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001280714.7

Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)]

NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)

Gene:

RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16q12.2

Genomic location:

Preferred name:

NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)

HGVS:

NC_000016.10:g.53652980dup
NG_008991.2:g.55882dup
NM_001127897.4:c.1709dup
NM_001308334.3:c.1709dup
NM_001330538.2:c.1709dup
NM_015272.5:c.1709dupMANE SELECT
NP_001121369.1:p.Asp571fs
NP_001295263.1:p.Asp571fs
NP_001317467.1:p.Asp571fs
NP_056087.2:p.Asp571fs
LRG_696t1:c.1709dup
LRG_696t2:c.1709dup
LRG_696:g.55882dup
LRG_696p1:p.Asp571fs
LRG_696p2:p.Asp571fs
NC_000016.9:g.53686889_53686890insT
NC_000016.9:g.53686892dup
NM_015272.2:c.1709dup
NM_015272.2:c.1709dupA
NM_015272.4:c.1709dupA
NM_015272.5:c.1709dupAMANE SELECT

Protein change:

D571fs

Links:

dbSNP: rs778149316

NCBI 1000 Genomes Browser:

rs778149316

Molecular consequence:

NM_001127897.4:c.1709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001308334.3:c.1709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330538.2:c.1709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015272.5:c.1709dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001468020	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 3, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002019897	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 11, 2019)	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

SCV001468020

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 3, 2020)

germline

clinical testing

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

SCV002019897

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 11, 2019)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV001468020.1

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

Description

PVS1, PM2, PM3

#	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

From Revvity Omics, Revvity, SCV002019897.3

#	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: Oct 13, 2024

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