NM_001306158.2(RABL2A):c.166C>G (p.Leu56Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 17, 2024
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:: RCV004443340.1

Allele description [Variation Report for NM_001306158.2(RABL2A):c.166C>G (p.Leu56Val)]

NM_001306158.2(RABL2A):c.166C>G (p.Leu56Val)

Gene:

RABL2A:RAB, member of RAS oncogene family like 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.1

Genomic location:

Preferred name:

NM_001306158.2(RABL2A):c.166C>G (p.Leu56Val)

HGVS:

NC_000002.12:g.113634181C>G
NM_001306158.2:c.166C>GMANE SELECT
NM_001306159.2:c.166C>G
NM_001306160.3:c.166C>G
NM_001306161.2:c.166C>G
NM_001354405.2:c.166C>G
NM_001354406.2:c.166C>G
NM_001354407.2:c.166C>G
NM_001354408.2:c.166C>G
NM_001354409.2:c.166C>G
NM_001354410.2:c.166C>G
NM_001354412.2:c.166C>G
NM_001354413.2:c.166C>G
NM_001354414.2:c.166C>G
NM_001354416.2:c.166C>G
NM_001354417.2:c.166C>G
NM_001354418.2:c.166C>G
NM_001354419.2:c.166C>G
NM_001354421.2:c.166C>G
NM_001354423.2:c.166C>G
NM_001354424.2:c.166C>G
NM_001354425.2:c.-113C>G
NM_001354426.2:c.-90C>G
NM_001354427.2:c.-31C>G
NM_001354428.2:c.-31C>G
NM_007082.5:c.166C>G
NM_013412.4:c.166C>G
NP_001293087.1:p.Leu56Val
NP_001293088.1:p.Leu56Val
NP_001293089.1:p.Leu56Val
NP_001293090.1:p.Leu56Val
NP_001341334.1:p.Leu56Val
NP_001341335.1:p.Leu56Val
NP_001341336.1:p.Leu56Val
NP_001341337.1:p.Leu56Val
NP_001341338.1:p.Leu56Val
NP_001341339.1:p.Leu56Val
NP_001341341.1:p.Leu56Val
NP_001341342.1:p.Leu56Val
NP_001341343.1:p.Leu56Val
NP_001341345.1:p.Leu56Val
NP_001341346.1:p.Leu56Val
NP_001341347.1:p.Leu56Val
NP_001341348.1:p.Leu56Val
NP_001341350.1:p.Leu56Val
NP_001341352.1:p.Leu56Val
NP_001341353.1:p.Leu56Val
NP_009013.1:p.Leu56Val
NP_038198.1:p.Leu56Val
NC_000002.11:g.114391758C>G
NM_013412.2:c.166C>G
NR_148879.2:n.354C>G
NR_148880.2:n.354C>G
NR_148881.2:n.358C>G
NR_148882.2:n.354C>G

Protein change:

L56V

Molecular consequence:

NM_001354425.2:c.-113C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354426.2:c.-90C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354427.2:c.-31C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354428.2:c.-31C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001306158.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001306159.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001306160.3:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001306161.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354405.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354406.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354407.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354408.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354409.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354410.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354412.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354413.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354414.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354416.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354417.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354418.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354419.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354421.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354423.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354424.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007082.5:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_013412.4:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148879.2:n.354C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148880.2:n.354C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148881.2:n.358C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148882.2:n.354C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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MULTISPECIES: 30S ribosomal protein S18 [Bacillaceae]
MULTISPECIES: 30S ribosomal protein S18 [Bacillaceae]
gi|503167246|ref|WP_013401907.1|

Protein
Small proximal tibial epiphyses
Small proximal tibial epiphyses

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004936353	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 17, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004936353

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 17, 2024)

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, SCV004936353.1

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

Description

The c.166C>G (p.L56V) alteration is located in exon 4 (coding exon 3) of the RABL2A gene. This alteration results from a C to G substitution at nucleotide position 166, causing the leucine (L) at amino acid position 56 to be replaced by a valine (V). 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: May 7, 2024

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