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NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala) AND Lynch syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 2018
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000075452.4

Allele description [Variation Report for NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala)]

NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala)
HGVS:
  • NC_000003.12:g.37048608A>C
  • NG_007109.2:g.60259A>C
  • NM_000249.4:c.1988A>CMANE SELECT
  • NM_001167617.3:c.1694A>C
  • NM_001167618.3:c.1265A>C
  • NM_001167619.3:c.1265A>C
  • NM_001258271.2:c.1896+925A>C
  • NM_001258273.2:c.1265A>C
  • NM_001258274.3:c.1265A>C
  • NM_001354615.2:c.1265A>C
  • NM_001354616.2:c.1265A>C
  • NM_001354617.2:c.1265A>C
  • NM_001354618.2:c.1265A>C
  • NM_001354619.2:c.1265A>C
  • NM_001354620.2:c.1694A>C
  • NM_001354621.2:c.965A>C
  • NM_001354622.2:c.965A>C
  • NM_001354623.2:c.965A>C
  • NM_001354624.2:c.914A>C
  • NM_001354625.2:c.914A>C
  • NM_001354626.2:c.914A>C
  • NM_001354627.2:c.914A>C
  • NM_001354628.2:c.1897-296A>C
  • NM_001354629.2:c.1889A>C
  • NM_001354630.2:c.1823A>C
  • NP_000240.1:p.Glu663Ala
  • NP_000240.1:p.Glu663Ala
  • NP_001161089.1:p.Glu565Ala
  • NP_001161090.1:p.Glu422Ala
  • NP_001161091.1:p.Glu422Ala
  • NP_001245202.1:p.Glu422Ala
  • NP_001245203.1:p.Glu422Ala
  • NP_001341544.1:p.Glu422Ala
  • NP_001341545.1:p.Glu422Ala
  • NP_001341546.1:p.Glu422Ala
  • NP_001341547.1:p.Glu422Ala
  • NP_001341548.1:p.Glu422Ala
  • NP_001341549.1:p.Glu565Ala
  • NP_001341550.1:p.Glu322Ala
  • NP_001341551.1:p.Glu322Ala
  • NP_001341552.1:p.Glu322Ala
  • NP_001341553.1:p.Glu305Ala
  • NP_001341554.1:p.Glu305Ala
  • NP_001341555.1:p.Glu305Ala
  • NP_001341556.1:p.Glu305Ala
  • NP_001341558.1:p.Glu630Ala
  • NP_001341559.1:p.Glu608Ala
  • LRG_216t1:c.1988A>C
  • LRG_216:g.60259A>C
  • LRG_216p1:p.Glu663Ala
  • NC_000003.11:g.37090099A>C
  • NM_000249.3:c.1988A>C
Protein change:
E305A
Links:
dbSNP: rs63751682
Molecular consequence:
  • NM_001258271.2:c.1896+925A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.2:c.1897-296A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.1988A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167617.3:c.1694A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167618.3:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167619.3:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258273.2:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258274.3:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354615.2:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354616.2:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354617.2:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354618.2:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354619.2:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354620.2:c.1694A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354621.2:c.965A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354622.2:c.965A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354623.2:c.965A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354624.2:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354625.2:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354626.2:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354627.2:c.914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.1889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.1823A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome 1
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000106449International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v2.4)		Uncertain significance
(Jun 13, 2018) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000106449.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant reclassification: MLH1 methylation not tested in tumour

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

Last Updated: Jun 9, 2024

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