NM_000249.4(MLH1):c.80G>A (p.Arg27Gln) AND Lynch syndrome II

Clinical significance:Uncertain significance (Last evaluated: Nov 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000662868.1

Allele description [Variation Report for NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)]

NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)

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.80G>A (p.Arg27Gln)
HGVS:
  • NC_000003.12:g.36993627G>A
  • NG_007109.2:g.5278G>A
  • NG_008418.1:g.4678C>T
  • NM_000249.4:c.80G>AMANE SELECT
  • NM_001167617.3:c.-437G>A
  • NM_001167618.3:c.-866G>A
  • NM_001167619.3:c.-779G>A
  • NM_001258271.2:c.80G>A
  • NM_001258273.2:c.-553G>A
  • NM_001258274.3:c.-1016G>A
  • NM_001354615.2:c.-547G>A
  • NM_001354616.2:c.-547G>A
  • NM_001354617.2:c.-639G>A
  • NM_001354618.2:c.-871G>A
  • NM_001354619.2:c.-995G>A
  • NM_001354620.2:c.-205G>A
  • NM_001354621.2:c.-964G>A
  • NM_001354622.2:c.-1077G>A
  • NM_001354623.2:c.-986G>A
  • NM_001354624.2:c.-747G>A
  • NM_001354625.2:c.-645G>A
  • NM_001354626.2:c.-742G>A
  • NM_001354627.2:c.-974G>A
  • NM_001354628.2:c.80G>A
  • NM_001354629.2:c.80G>A
  • NM_001354630.2:c.80G>A
  • NP_000240.1:p.Arg27Gln
  • NP_000240.1:p.Arg27Gln
  • NP_001245200.1:p.Arg27Gln
  • NP_001341557.1:p.Arg27Gln
  • NP_001341558.1:p.Arg27Gln
  • NP_001341559.1:p.Arg27Gln
  • LRG_216t1:c.80G>A
  • LRG_216:g.5278G>A
  • LRG_216p1:p.Arg27Gln
  • NC_000003.11:g.37035118G>A
  • NM_000249.3:c.80G>A
Protein change:
R27Q
Links:
dbSNP: rs138705565
NCBI 1000 Genomes Browser:
rs138705565
Molecular consequence:
  • NM_001167617.3:c.-437G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-866G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-779G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-553G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-1016G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-547G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-547G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-639G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-871G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-995G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-205G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-964G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-1077G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-986G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-747G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-645G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-742G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-974G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.80G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.80G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.80G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.80G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.80G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome II (HNPCC2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; MLH1-Related Hereditary Non-Polyposis Colon Cancer; 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000785757Counsylcriteria provided, single submitter
Uncertain significance
(Nov 20, 2017)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

Maxwell KN, Wubbenhorst B, D'Andrea K, Garman B, Long JM, Powers J, Rathbun K, Stopfer JE, Zhu J, Bradbury AR, Simon MS, DeMichele A, Domchek SM, Nathanson KL.

Genet Med. 2015 Aug;17(8):630-8. doi: 10.1038/gim.2014.176. Epub 2014 Dec 11.

PubMed [citation]
PMID:
25503501
PMCID:
PMC4465412

Details of each submission

From Counsyl, SCV000785757.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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