NM_012154.5(AGO2):c.2389G>A (p.Val797Met) AND Lessel-Kreienkamp syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 5, 2022
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:: RCV002795910.2

Allele description [Variation Report for NM_012154.5(AGO2):c.2389G>A (p.Val797Met)]

NM_012154.5(AGO2):c.2389G>A (p.Val797Met)

Gene:

AGO2:argonaute RISC catalytic component 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_012154.5(AGO2):c.2389G>A (p.Val797Met)

HGVS:

NC_000008.11:g.140532498C>T
NM_001164623.3:c.2287G>A
NM_012154.5:c.2389G>AMANE SELECT
NP_001158095.1:p.Val763Met
NP_036286.2:p.Val797Met
NC_000008.10:g.141542597C>T

Protein change:

V763M

Links:

dbSNP: rs1467755029

NCBI 1000 Genomes Browser:

rs1467755029

Molecular consequence:

NM_001164623.3:c.2287G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012154.5:c.2389G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lessel-Kreienkamp syndrome
Identifiers:: MONDO: MONDO:0030897; MedGen: C5436892; OMIM: 619149

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003035406	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Likely pathogenic (Apr 5, 2022)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003035406

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Likely pathogenic
(Apr 5, 2022)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV003035406.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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