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NM_002755.4(MAP2K1):c.793C>T (p.Pro265Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 2017
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:
RCV000680631.1

Allele description [Variation Report for NM_002755.4(MAP2K1):c.793C>T (p.Pro265Ser)]

NM_002755.4(MAP2K1):c.793C>T (p.Pro265Ser)

Gene:
MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_002755.4(MAP2K1):c.793C>T (p.Pro265Ser)
HGVS:
  • NC_000015.10:g.66485089C>T
  • NG_008305.1:g.103217C>T
  • NM_002755.4:c.793C>TMANE SELECT
  • NP_002746.1:p.Pro265Ser
  • NP_002746.1:p.Pro265Ser
  • LRG_725t1:c.793C>T
  • LRG_725:g.103217C>T
  • LRG_725p1:p.Pro265Ser
  • NC_000015.9:g.66777427C>T
  • NM_002755.3:c.793C>T
Protein change:
P265S
Links:
dbSNP: rs1567025858
NCBI 1000 Genomes Browser:
rs1567025858
Molecular consequence:
  • NM_002755.4:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000808075GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 7, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000808075.1

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

Description

The P265S variant in the MAP2K1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The P265S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret P265S as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024