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NM_004672.5(MAP3K6):c.3589C>G (p.Arg1197Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 15, 2023
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:
RCV004408374.1

Allele description [Variation Report for NM_004672.5(MAP3K6):c.3589C>G (p.Arg1197Gly)]

NM_004672.5(MAP3K6):c.3589C>G (p.Arg1197Gly)

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.3589C>G (p.Arg1197Gly)
HGVS:
  • NC_000001.11:g.27356436G>C
  • NG_051309.1:g.16602C>G
  • NM_001297609.2:c.3565C>G
  • NM_004672.5:c.3589C>GMANE SELECT
  • NP_001284538.1:p.Arg1189Gly
  • NP_004663.3:p.Arg1197Gly
  • LRG_1086t1:c.3589C>G
  • LRG_1086:g.16602C>G
  • LRG_1086p1:p.Arg1197Gly
  • NC_000001.10:g.27682927G>C
  • NM_004672.3:c.3589C>G
Protein change:
R1189G
Molecular consequence:
  • NM_001297609.2:c.3565C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004672.5:c.3589C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004901295Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 15, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004901295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.3589C>G (p.R1197G) alteration is located in exon 26 (coding exon 26) of the MAP3K6 gene. This alteration results from a C to G substitution at nucleotide position 3589, causing the arginine (R) at amino acid position 1197 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024