NM_004672.5(MAP3K6):c.3698G>C (p.Gly1233Ala) AND MAP3K6-related disorder

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 24, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003976603.2

Allele description [Variation Report for NM_004672.5(MAP3K6):c.3698G>C (p.Gly1233Ala)]

NM_004672.5(MAP3K6):c.3698G>C (p.Gly1233Ala)

Gene:

MAP3K6:mitogen-activated protein kinase kinase kinase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_004672.5(MAP3K6):c.3698G>C (p.Gly1233Ala)

HGVS:

NC_000001.11:g.27356039C>G
NG_051309.1:g.16999G>C
NM_001297609.2:c.3674G>C
NM_004672.5:c.3698G>CMANE SELECT
NP_001284538.1:p.Gly1225Ala
NP_004663.3:p.Gly1233Ala
LRG_1086t1:c.3698G>C
LRG_1086:g.16999G>C
LRG_1086p1:p.Gly1233Ala
NC_000001.10:g.27682530C>G
NM_004672.4:c.3698G>C

Protein change:

G1225A

Molecular consequence:

NM_001297609.2:c.3674G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004672.5:c.3698G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: MAP3K6-related disorder
Synonyms:: MAP3K6-related condition
Identifiers:

Recent activity

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hydroxymethylglutaryl-CoA synthase [Sulfolobus islandicus]
hydroxymethylglutaryl-CoA synthase [Sulfolobus islandicus]
gi|502119675|ref|WP_012713834.1|

Protein
Caenorhabditis elegans CX domain-containing protein (F21C10.1), mRNA
Caenorhabditis elegans CX domain-containing protein (F21C10.1), mRNA
gi|1845977856|ref|NM_001356721.2|

Nucleotide
Serpentine Receptor, class H [Caenorhabditis elegans]
Serpentine Receptor, class H [Caenorhabditis elegans]
gi|1254050727|ref|NP_001343592.1|

Protein
mitogen-activated protein kinase kinase kinase 6 isoform X3 [Homo sapiens]
mitogen-activated protein kinase kinase kinase 6 isoform X3 [Homo sapiens]
gi|2217272152|ref|XP_047289651.1|

Protein
MAG: Nitrospirota bacterium isolate REEB155, whole genome shotgun sequencing pro...
MAG: Nitrospirota bacterium isolate REEB155, whole genome shotgun sequencing project
gi|2449860489|gb|JAGWKF000000000.1| F010000000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004786746	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Benign (Apr 24, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004786746

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Benign
(Apr 24, 2019)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004786746.2

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

Description

This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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 13, 2024

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