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NM_000179.3(MSH6):c.3235A>C (p.Ile1079Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 26, 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:
RCV000115408.3

Allele description [Variation Report for NM_000179.3(MSH6):c.3235A>C (p.Ile1079Leu)]

NM_000179.3(MSH6):c.3235A>C (p.Ile1079Leu)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3235A>C (p.Ile1079Leu)
Other names:
p.I1079L:ATT>CTT
HGVS:
  • NC_000002.12:g.47803482A>C
  • NG_007111.1:g.25336A>C
  • NM_000179.3:c.3235A>CMANE SELECT
  • NM_001281492.2:c.2845A>C
  • NM_001281493.2:c.2329A>C
  • NM_001281494.2:c.2329A>C
  • NP_000170.1:p.Ile1079Leu
  • NP_000170.1:p.Ile1079Leu
  • NP_001268421.1:p.Ile949Leu
  • NP_001268422.1:p.Ile777Leu
  • NP_001268423.1:p.Ile777Leu
  • LRG_219t1:c.3235A>C
  • LRG_219:g.25336A>C
  • LRG_219p1:p.Ile1079Leu
  • NC_000002.11:g.48030621A>C
  • NM_000179.2:c.3235A>C
Protein change:
I1079L
Links:
dbSNP: rs587779933
NCBI 1000 Genomes Browser:
rs587779933
Molecular consequence:
  • NM_000179.3:c.3235A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.2845A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.2329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.2329A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000149317GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 26, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000149317.11

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

Description

This variant is denoted MSH6 c.3235A>C at the cDNA level, p.Ile1079Leu (I1079L) at the protein level, and results in the change of an Isoleucine to a Leucine (ATT>CTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Ile1079Leu 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 Isoleucine and Leucine share similar properties, this is considered a conservative amino acid substitution. MSH6 Ile1079Leu occurs at a position that is variable across species and is not located in a known functional domain. 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 MSH6 Ile1079Leu 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