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NM_000249.4(MLH1):c.392C>G (p.Ser131Ter) AND Lynch syndrome 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001804961.2

Allele description [Variation Report for NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)]

NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)

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.392C>G (p.Ser131Ter)
HGVS:
  • NC_000003.12:g.37007002C>G
  • NG_007109.2:g.18653C>G
  • NM_000249.4:c.392C>GMANE SELECT
  • NM_001167617.3:c.98C>G
  • NM_001167618.3:c.-332C>G
  • NM_001167619.3:c.-240C>G
  • NM_001258271.2:c.392C>G
  • NM_001258273.2:c.-332C>G
  • NM_001258274.3:c.-332C>G
  • NM_001354615.2:c.-240C>G
  • NM_001354616.2:c.-240C>G
  • NM_001354617.2:c.-332C>G
  • NM_001354618.2:c.-332C>G
  • NM_001354619.2:c.-332C>G
  • NM_001354620.2:c.98C>G
  • NM_001354621.2:c.-425C>G
  • NM_001354622.2:c.-538C>G
  • NM_001354623.2:c.-538C>G
  • NM_001354624.2:c.-435C>G
  • NM_001354625.2:c.-343C>G
  • NM_001354626.2:c.-435C>G
  • NM_001354627.2:c.-435C>G
  • NM_001354628.2:c.392C>G
  • NM_001354629.2:c.293C>G
  • NM_001354630.2:c.392C>G
  • NP_000240.1:p.Ser131Ter
  • NP_000240.1:p.Ser131Ter
  • NP_001161089.1:p.Ser33Ter
  • NP_001245200.1:p.Ser131Ter
  • NP_001341549.1:p.Ser33Ter
  • NP_001341557.1:p.Ser131Ter
  • NP_001341558.1:p.Ser98Ter
  • NP_001341559.1:p.Ser131Ter
  • LRG_216t1:c.392C>G
  • LRG_216:g.18653C>G
  • LRG_216p1:p.Ser131Ter
  • NC_000003.11:g.37048493C>G
  • NM_000249.3:c.392C>G
  • NM_001167618.1:c.-332C>G
Protein change:
S131*
Links:
dbSNP: rs63749818
NCBI 1000 Genomes Browser:
rs63749818
Molecular consequence:
  • NM_001167618.3:c.-332C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-240C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-332C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-332C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-240C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-240C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-332C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-332C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-332C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-425C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-538C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-538C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-435C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-343C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-435C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-435C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.392C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167617.3:c.98C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258271.2:c.392C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354620.2:c.98C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354628.2:c.392C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354629.2:c.293C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354630.2:c.392C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002054062GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV002054062.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024