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NM_005204.4(MAP3K8):c.14G>T (p.Ser5Ile) 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:
RCV004408402.1

Allele description [Variation Report for NM_005204.4(MAP3K8):c.14G>T (p.Ser5Ile)]

NM_005204.4(MAP3K8):c.14G>T (p.Ser5Ile)

Gene:
MAP3K8:mitogen-activated protein kinase kinase kinase 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p11.23
Genomic location:
Preferred name:
NM_005204.4(MAP3K8):c.14G>T (p.Ser5Ile)
HGVS:
  • NC_000010.11:g.30438952G>T
  • NG_029984.1:g.9932G>T
  • NG_029984.2:g.9933G>T
  • NM_001244134.1:c.14G>T
  • NM_001320961.2:c.14G>T
  • NM_005204.4:c.14G>TMANE SELECT
  • NP_001231063.1:p.Ser5Ile
  • NP_001307890.1:p.Ser5Ile
  • NP_005195.2:p.Ser5Ile
  • NC_000010.10:g.30727881G>T
  • NM_005204.3:c.14G>T
Protein change:
S5I
Molecular consequence:
  • NM_001244134.1:c.14G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320961.2:c.14G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005204.4:c.14G>T - 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
SCV004901329Ambry 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, SCV004901329.1

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

Description

The c.14G>T (p.S5I) alteration is located in exon 3 (coding exon 1) of the MAP3K8 gene. This alteration results from a G to T substitution at nucleotide position 14, causing the serine (S) at amino acid position 5 to be replaced by an isoleucine (I). 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