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NM_000249.4(MLH1):c.186A>G (p.Gln62=) AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000987144.8

Allele description [Variation Report for NM_000249.4(MLH1):c.186A>G (p.Gln62=)]

NM_000249.4(MLH1):c.186A>G (p.Gln62=)

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.186A>G (p.Gln62=)
HGVS:
  • NC_000003.12:g.36996688A>G
  • NG_007109.2:g.8339A>G
  • NG_008418.1:g.1617T>C
  • NM_000249.4:c.186A>GMANE SELECT
  • NM_001167617.3:c.-104A>G
  • NM_001167618.3:c.-538A>G
  • NM_001167619.3:c.-446A>G
  • NM_001258271.2:c.186A>G
  • NM_001258273.2:c.-517+3025A>G
  • NM_001258274.3:c.-683A>G
  • NM_001354615.2:c.-441A>G
  • NM_001354616.2:c.-446A>G
  • NM_001354617.2:c.-538A>G
  • NM_001354618.2:c.-538A>G
  • NM_001354619.2:c.-538A>G
  • NM_001354620.2:c.-104A>G
  • NM_001354621.2:c.-631A>G
  • NM_001354622.2:c.-744A>G
  • NM_001354623.2:c.-723+2798A>G
  • NM_001354624.2:c.-641A>G
  • NM_001354625.2:c.-544A>G
  • NM_001354626.2:c.-641A>G
  • NM_001354627.2:c.-641A>G
  • NM_001354628.2:c.186A>G
  • NM_001354629.2:c.186A>G
  • NM_001354630.2:c.186A>G
  • NP_000240.1:p.Gln62=
  • NP_000240.1:p.Gln62=
  • NP_001245200.1:p.Gln62=
  • NP_001341557.1:p.Gln62=
  • NP_001341558.1:p.Gln62=
  • NP_001341559.1:p.Gln62=
  • LRG_216t1:c.186A>G
  • LRG_216:g.8339A>G
  • LRG_216p1:p.Gln62=
  • NC_000003.11:g.37038179A>G
  • NM_000249.3:c.186A>G
Links:
dbSNP: rs1559506261
NCBI 1000 Genomes Browser:
rs1559506261
Molecular consequence:
  • NM_001167617.3:c.-104A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-538A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-446A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-683A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-441A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-446A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-538A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-538A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-538A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-104A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-631A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-744A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-641A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-544A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-641A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-641A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-517+3025A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-723+2798A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.186A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258271.2:c.186A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354628.2:c.186A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354629.2:c.186A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354630.2:c.186A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Colorectal cancer, hereditary nonpolyposis, type 2 (LYNCH2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Lynch syndrome II; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001136367Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001136367.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024