NM_001366006.2(ADGRL2):c.4009C>A (p.Leu1337Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 16, 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:: RCV004111277.1

Allele description [Variation Report for NM_001366006.2(ADGRL2):c.4009C>A (p.Leu1337Ile)]

NM_001366006.2(ADGRL2):c.4009C>A (p.Leu1337Ile)

Gene:

ADGRL2:adhesion G protein-coupled receptor L2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

Preferred name:

NM_001366006.2(ADGRL2):c.4009C>A (p.Leu1337Ile)

HGVS:

NC_000001.11:g.81990744C>A
NM_001297704.3:c.3811C>A
NM_001297705.3:c.*383C>A
NM_001297706.3:c.*342C>A
NM_001330645.3:c.3850C>A
NM_001350698.2:c.3991C>A
NM_001350699.2:c.*401C>A
NM_001366002.2:c.3811C>A
NM_001366003.2:c.3991C>A
NM_001366004.2:c.3991C>A
NM_001366005.2:c.4009C>A
NM_001366006.2:c.4009C>AMANE SELECT
NM_001366007.2:c.*369C>A
NM_001366008.2:c.*369C>A
NM_001366009.2:c.*342C>A
NM_001393349.1:c.3991C>A
NM_001393350.1:c.3850C>A
NM_001393351.1:c.3811C>A
NM_001393352.1:c.3811C>A
NM_001393353.1:c.*342C>A
NM_001393354.1:c.*401C>A
NM_012302.5:c.3811C>A
NP_001284633.1:p.Leu1271Ile
NP_001317574.1:p.Leu1284Ile
NP_001337627.1:p.Leu1331Ile
NP_001352931.1:p.Leu1271Ile
NP_001352932.1:p.Leu1331Ile
NP_001352933.1:p.Leu1331Ile
NP_001352934.1:p.Leu1337Ile
NP_001352935.1:p.Leu1337Ile
NP_001380278.1:p.Leu1331Ile
NP_001380279.1:p.Leu1284Ile
NP_001380280.1:p.Leu1271Ile
NP_001380281.1:p.Leu1271Ile
NP_036434.1:p.Leu1271Ile
NC_000001.10:g.82456428C>A
NM_012302.2:c.3811C>A
NR_171658.1:n.4330C>A

Protein change:

L1271I

Molecular consequence:

NM_001297705.3:c.*383C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001297706.3:c.*342C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001350699.2:c.*401C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001366007.2:c.*369C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001366008.2:c.*369C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001366009.2:c.*342C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001393353.1:c.*342C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001393354.1:c.*401C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001297704.3:c.3811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330645.3:c.3850C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350698.2:c.3991C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366002.2:c.3811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366003.2:c.3991C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366004.2:c.3991C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366005.2:c.4009C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366006.2:c.4009C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001393349.1:c.3991C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001393350.1:c.3850C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001393351.1:c.3811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001393352.1:c.3811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012302.5:c.3811C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_171658.1:n.4330C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003578452	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 16, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003578452

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 16, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003578452.2

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

Description

The c.3811C>A (p.L1271I) alteration is located in exon 20 (coding exon 19) of the ADGRL2 gene. This alteration results from a C to A substitution at nucleotide position 3811, causing the leucine (L) at amino acid position 1271 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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 26, 2024

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