NM_001162498.3(LPAR6):c.370_375del (p.Ser124_Lys125del) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 9, 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:: RCV003730738.2

Allele description [Variation Report for NM_001162498.3(LPAR6):c.370_375del (p.Ser124_Lys125del)]

NM_001162498.3(LPAR6):c.370_375del (p.Ser124_Lys125del)

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.370_375del (p.Ser124_Lys125del)

HGVS:

NC_000013.11:g.48412052_48412057del
NG_009009.1:g.113306_113311del
NG_012874.2:g.37615_37620del
NG_127784.1:g.556_561del
NM_000321.3:c.1695+30609_1695+30614delMANE SELECT
NM_001162497.3:c.370_375del
NM_001162498.3:c.370_375delMANE SELECT
NM_001377316.2:c.370_375del
NM_001377317.2:c.370_375del
NM_001407165.1:c.1695+30609_1695+30614del
NM_005767.7:c.370_375del
NP_001155969.1:p.Ser124_Lys125del
NP_001155970.1:p.Ser124_Lys125del
NP_001364245.1:p.Ser124_Lys125del
NP_001364246.1:p.Ser124_Lys125del
NP_005758.2:p.Ser124_Lys125del
LRG_517:g.113306_113311del
NC_000013.10:g.48986185_48986190del
NC_000013.10:g.48986188_48986193del
NG_012874.1:g.37651_37656del

Molecular consequence:

NM_001162497.3:c.370_375del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001162498.3:c.370_375del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001377316.2:c.370_375del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001377317.2:c.370_375del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_005767.7:c.370_375del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_000321.3:c.1695+30609_1695+30614del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407165.1:c.1695+30609_1695+30614del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Mus musculus zinc finger, DHHC domain containing 6, mRNA (cDNA clone MGC:30394 I...
Mus musculus zinc finger, DHHC domain containing 6, mRNA (cDNA clone MGC:30394 IMAGE:4459242), complete cds
gi|23271075|gb|BC033317.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004522152	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Oct 9, 2023)	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

SCV004522152

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Oct 9, 2023)

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004522152.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine