NM_052879.5(LARP4):c.1096A>G (p.Met366Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 12, 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:: RCV004114480.1

Allele description [Variation Report for NM_052879.5(LARP4):c.1096A>G (p.Met366Val)]

NM_052879.5(LARP4):c.1096A>G (p.Met366Val)

Gene:

LARP4:La ribonucleoprotein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_052879.5(LARP4):c.1096A>G (p.Met366Val)

HGVS:

NC_000012.12:g.50454392A>G
NM_001170803.2:c.883A>G
NM_001170804.2:c.1096A>G
NM_001170808.2:c.1096A>G
NM_001330415.2:c.1114A>G
NM_001352304.2:c.886A>G
NM_001352305.2:c.1111A>G
NM_001352306.2:c.1066A>G
NM_001352307.2:c.1042A>G
NM_001352308.2:c.901A>G
NM_001352309.2:c.886A>G
NM_001352310.2:c.886A>G
NM_001352311.2:c.886A>G
NM_001352312.2:c.886A>G
NM_001352313.2:c.886A>G
NM_001352314.2:c.886A>G
NM_001352315.2:c.880A>G
NM_001352316.2:c.673A>G
NM_001352317.2:c.673A>G
NM_001352318.2:c.886A>G
NM_001352319.2:c.670A>G
NM_001352320.2:c.673A>G
NM_001352321.2:c.1096A>G
NM_001352322.2:c.883A>G
NM_001352323.2:c.1096A>G
NM_001352324.2:c.886A>G
NM_001352325.2:c.1096A>G
NM_001352326.2:c.883A>G
NM_052879.5:c.1096A>GMANE SELECT
NM_199188.3:c.1093A>G
NM_199190.3:c.883A>G
NP_001164274.1:p.Met295Val
NP_001164275.1:p.Met366Val
NP_001164279.1:p.Met366Val
NP_001317344.1:p.Met372Val
NP_001339233.1:p.Met296Val
NP_001339234.1:p.Met371Val
NP_001339235.1:p.Met356Val
NP_001339236.1:p.Met348Val
NP_001339237.1:p.Met301Val
NP_001339238.1:p.Met296Val
NP_001339239.1:p.Met296Val
NP_001339240.1:p.Met296Val
NP_001339241.1:p.Met296Val
NP_001339242.1:p.Met296Val
NP_001339243.1:p.Met296Val
NP_001339244.1:p.Met294Val
NP_001339245.1:p.Met225Val
NP_001339246.1:p.Met225Val
NP_001339247.1:p.Met296Val
NP_001339248.1:p.Met224Val
NP_001339249.1:p.Met225Val
NP_001339250.1:p.Met366Val
NP_001339251.1:p.Met295Val
NP_001339252.1:p.Met366Val
NP_001339253.1:p.Met296Val
NP_001339254.1:p.Met366Val
NP_001339255.1:p.Met295Val
NP_443111.4:p.Met366Val
NP_954658.2:p.Met365Val
NP_954660.1:p.Met295Val
NC_000012.11:g.50848175A>G
NM_052879.4:c.1096A>G
NR_033200.1:n.1347A>G

Protein change:

M224V

Molecular consequence:

NM_001170803.2:c.883A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001170804.2:c.1096A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001170808.2:c.1096A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330415.2:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352304.2:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352305.2:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352306.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352307.2:c.1042A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352308.2:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352309.2:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352310.2:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352311.2:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352312.2:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352313.2:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352314.2:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352315.2:c.880A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352316.2:c.673A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352317.2:c.673A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352318.2:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352319.2:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352320.2:c.673A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352321.2:c.1096A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352322.2:c.883A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352323.2:c.1096A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352324.2:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352325.2:c.1096A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352326.2:c.883A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_052879.5:c.1096A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_199188.3:c.1093A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_199190.3:c.883A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Ets2 repressor factor, isoform CRA_a [Homo sapiens]
Ets2 repressor factor, isoform CRA_a [Homo sapiens]
gi|119577520|gb|EAW57116.1||gnl|WGS |hCP39419

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003585524	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 12, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003585524

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 12, 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, SCV003585524.2

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

Description

The c.1096A>G (p.M366V) alteration is located in exon 10 (coding exon 10) of the LARP4 gene. This alteration results from a A to G substitution at nucleotide position 1096, causing the methionine (M) at amino acid position 366 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: Nov 10, 2024

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