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NM_145331.3(MAP3K7):c.1108G>A (p.Ala370Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 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:
RCV002691463.2

Allele description [Variation Report for NM_145331.3(MAP3K7):c.1108G>A (p.Ala370Thr)]

NM_145331.3(MAP3K7):c.1108G>A (p.Ala370Thr)

Gene:
MAP3K7:mitogen-activated protein kinase kinase kinase 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q15
Genomic location:
Preferred name:
NM_145331.3(MAP3K7):c.1108G>A (p.Ala370Thr)
HGVS:
  • NC_000006.12:g.90547360C>T
  • NG_011966.2:g.44829G>A
  • NM_003188.4:c.1108G>A
  • NM_145331.3:c.1108G>AMANE SELECT
  • NM_145332.3:c.1108G>A
  • NM_145333.3:c.1108G>A
  • NP_003179.1:p.Ala370Thr
  • NP_663304.1:p.Ala370Thr
  • NP_663305.1:p.Ala370Thr
  • NP_663306.1:p.Ala370Thr
  • NC_000006.11:g.91257079C>T
  • NM_145331.1:c.1108G>A
Protein change:
A370T
Molecular consequence:
  • NM_003188.4:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145331.3:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145332.3:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145333.3:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003535934Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 18, 2022) 		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, SCV003535934.2

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

Description

The c.1108G>A (p.A370T) alteration is located in exon 11 (coding exon 11) of the MAP3K7 gene. This alteration results from a G to A substitution at nucleotide position 1108, causing the alanine (A) at amino acid position 370 to be replaced by a threonine (T). 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 1, 2024