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NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 23, 2014
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:
RCV000160581.1

Allele description [Variation Report for NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)]

NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)
Other names:
p.L380S:TTA>TCA
HGVS:
  • NC_000002.12:g.47429804T>C
  • NG_007110.2:g.31681T>C
  • NM_000251.3:c.1139T>CMANE SELECT
  • NM_001258281.1:c.941T>C
  • NP_000242.1:p.Leu380Ser
  • NP_000242.1:p.Leu380Ser
  • NP_001245210.1:p.Leu314Ser
  • LRG_218t1:c.1139T>C
  • LRG_218:g.31681T>C
  • LRG_218p1:p.Leu380Ser
  • NC_000002.11:g.47656943T>C
  • NM_000251.1:c.1139T>C
  • NM_000251.2:c.1139T>C
Protein change:
L314S
Links:
dbSNP: rs730881755
NCBI 1000 Genomes Browser:
rs730881755
Molecular consequence:
  • NM_000251.3:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.941T>C - 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
SCV000211173GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 23, 2014) 		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, SCV000211173.9

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

Description

This variant is denoted MSH2 c.1139T>C at the cDNA level, p.Leu380Ser (L380S) at the protein level, and results in the change of a Leucine to a Serine (TTA>TCA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH2 Leu380Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Leucine and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH2 Leu380Ser occurs at a position that is well conserved across species and is located in the lever domain that interacts with MSH6 and MSH3 and stabilizes interaction with EXO1 (Lutzen 2008). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether MSH2 Leu380Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024