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NM_002419.4(MAP3K11):c.694G>A (p.Glu232Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 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:
RCV004416236.1

Allele description [Variation Report for NM_002419.4(MAP3K11):c.694G>A (p.Glu232Lys)]

NM_002419.4(MAP3K11):c.694G>A (p.Glu232Lys)

Gene:
MAP3K11:mitogen-activated protein kinase kinase kinase 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_002419.4(MAP3K11):c.694G>A (p.Glu232Lys)
HGVS:
  • NC_000011.10:g.65613063C>T
  • NG_122945.1:g.508C>T
  • NM_002419.4:c.694G>AMANE SELECT
  • NP_002410.1:p.Glu232Lys
  • NC_000011.9:g.65380534C>T
  • NM_002419.3:c.694G>A
Protein change:
E232K
Molecular consequence:
  • NM_002419.4:c.694G>A - 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
SCV004901526Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 17, 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, SCV004901526.1

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

Description

The c.694G>A (p.E232K) alteration is located in exon 1 (coding exon 1) of the MAP3K11 gene. This alteration results from a G to A substitution at nucleotide position 694, causing the glutamic acid (E) at amino acid position 232 to be replaced by a lysine (K). 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