NM_001162498.3(LPAR6):c.359del (p.Tyr120fs) AND Retinoblastoma

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 27, 2023
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:: RCV000989124.2

Allele description [Variation Report for NM_001162498.3(LPAR6):c.359del (p.Tyr120fs)]

NM_001162498.3(LPAR6):c.359del (p.Tyr120fs)

Genes:

RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q14.2

Genomic location:

Preferred name:

NM_001162498.3(LPAR6):c.359del (p.Tyr120fs)

HGVS:

NC_000013.11:g.48412065del
NG_009009.1:g.113319del
NG_012874.1:g.37640del
NG_012874.2:g.37604del
NG_127784.1:g.569del
NM_000321.3:c.1695+30622delMANE SELECT
NM_001162497.3:c.359del
NM_001162498.3:c.359delMANE SELECT
NM_001377316.2:c.359del
NM_001377317.2:c.359del
NM_001407165.1:c.1695+30622del
NM_005767.7:c.359del
NP_001155969.1:p.Tyr120fs
NP_001155970.1:p.Tyr120fs
NP_001364245.1:p.Tyr120fs
NP_001364246.1:p.Tyr120fs
NP_005758.2:p.Tyr120fs
LRG_517:g.113319del
NC_000013.10:g.48986201del
NC_000013.10:g.48986201delT

Protein change:

Y120fs

Links:

dbSNP: rs1275629547

NCBI 1000 Genomes Browser:

rs1275629547

Molecular consequence:

NM_001162497.3:c.359del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001162498.3:c.359del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377316.2:c.359del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377317.2:c.359del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005767.7:c.359del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000321.3:c.1695+30622del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407165.1:c.1695+30622del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Retinoblastoma (RB1)
Synonyms:: Eye cancer, retinoblastoma; RETINOBLASTOMA, SOMATIC
Identifiers:: MONDO: MONDO:0008380; MeSH: D012175; MedGen: C0035335; Orphanet: 790; OMIM: 180200; Human Phenotype Ontology: HP:0009919

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001139324	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Benign (Feb 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001139324

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Benign
(Feb 27, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001139324.2

#	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: Sep 1, 2024

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