NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) AND Lynch syndrome II

Clinical significance:Likely pathogenic (Last evaluated: Dec 7, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411311.1

Allele description [Variation Report for NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter)]

NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter)
HGVS:
  • NC_000003.12:g.37025817C>T
  • NG_007109.2:g.37468C>T
  • NM_000249.3:c.1219C>T
  • NM_001167617.2:c.925C>T
  • NM_001167618.2:c.496C>T
  • NM_001167619.2:c.496C>T
  • NM_001258271.1:c.1219C>T
  • NM_001258273.1:c.496C>T
  • NM_001258274.2:c.496C>T
  • NM_001354615.1:c.496C>T
  • NM_001354616.1:c.496C>T
  • NM_001354617.1:c.496C>T
  • NM_001354618.1:c.496C>T
  • NM_001354619.1:c.496C>T
  • NM_001354620.1:c.925C>T
  • NM_001354621.1:c.196C>T
  • NM_001354622.1:c.196C>T
  • NM_001354623.1:c.196C>T
  • NM_001354624.1:c.145C>T
  • NM_001354625.1:c.145C>T
  • NM_001354626.1:c.145C>T
  • NM_001354627.1:c.145C>T
  • NM_001354628.1:c.1219C>T
  • NM_001354629.1:c.1120C>T
  • NM_001354630.1:c.1219C>T
  • NP_000240.1:p.Gln407Ter
  • NP_001161089.1:p.Gln309Ter
  • NP_001161090.1:p.Gln166Ter
  • NP_001161091.1:p.Gln166Ter
  • NP_001245200.1:p.Gln407Ter
  • NP_001245202.1:p.Gln166Ter
  • NP_001245203.1:p.Gln166Ter
  • NP_001341544.1:p.Gln166Ter
  • NP_001341545.1:p.Gln166Ter
  • NP_001341546.1:p.Gln166Ter
  • NP_001341547.1:p.Gln166Ter
  • NP_001341548.1:p.Gln166Ter
  • NP_001341549.1:p.Gln309Ter
  • NP_001341550.1:p.Gln66Ter
  • NP_001341551.1:p.Gln66Ter
  • NP_001341552.1:p.Gln66Ter
  • NP_001341553.1:p.Gln49Ter
  • NP_001341554.1:p.Gln49Ter
  • NP_001341555.1:p.Gln49Ter
  • NP_001341556.1:p.Gln49Ter
  • NP_001341557.1:p.Gln407Ter
  • NP_001341558.1:p.Gln374Ter
  • NP_001341559.1:p.Gln407Ter
  • LRG_216t1:c.1219C>T
  • LRG_216:g.37468C>T
  • LRG_216p1:p.Gln407Ter
  • NC_000003.11:g.37067308C>T
  • p.Gln407*
Protein change:
Q166*
Links:
dbSNP: rs1057517541
NCBI 1000 Genomes Browser:
rs1057517541
Molecular consequence:
  • NM_000249.3:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167617.2:c.925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167618.2:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167619.2:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258271.1:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258273.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258274.2:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354615.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354616.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354617.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354618.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354619.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354620.1:c.925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354621.1:c.196C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354622.1:c.196C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354623.1:c.196C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354624.1:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354625.1:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354626.1:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354627.1:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354628.1:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354629.1:c.1120C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354630.1:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000487919Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 7, 2015)
unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

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

Citations

PubMed

Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.

Guindalini RS, Win AK, Gulden C, Lindor NM, Newcomb PA, Haile RW, Raymond V, Stoffel E, Hall M, Llor X, Ukaegbu CI, Solomon I, Weitzel J, Kalady M, Blanco A, Terdiman J, Shuttlesworth GA, Lynch PM, Hampel H, Lynch HT, Jenkins MA, Olopade OI, et al.

Gastroenterology. 2015 Nov;149(6):1446-53. doi: 10.1053/j.gastro.2015.07.052. Epub 2015 Aug 3.

PubMed [citation]
PMID:
26248088
PMCID:
PMC4648287

Details of each submission

From Counsyl, SCV000487919.1

#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: Sep 26, 2021

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