U.S. flag

An official website of the United States government

NM_000249.4(MLH1):c.195delinsATCTT (p.Thr66fs) AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 11, 2023
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:
RCV003451502.1

Allele description [Variation Report for NM_000249.4(MLH1):c.195delinsATCTT (p.Thr66fs)]

NM_000249.4(MLH1):c.195delinsATCTT (p.Thr66fs)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.195delinsATCTT (p.Thr66fs)
HGVS:
  • NC_000003.12:g.36996697delinsATCTT
  • NG_007109.2:g.8348delinsATCTT
  • NG_008418.1:g.1608delinsAAGAT
  • NM_000249.4:c.195delinsATCTTMANE SELECT
  • NM_001167617.3:c.-95delinsATCTT
  • NM_001167618.3:c.-529delinsATCTT
  • NM_001167619.3:c.-437delinsATCTT
  • NM_001258271.2:c.195delinsATCTT
  • NM_001258273.2:c.-517+3034delinsATCTT
  • NM_001258274.3:c.-674delinsATCTT
  • NM_001354615.2:c.-432delinsATCTT
  • NM_001354616.2:c.-437delinsATCTT
  • NM_001354617.2:c.-529delinsATCTT
  • NM_001354618.2:c.-529delinsATCTT
  • NM_001354619.2:c.-529delinsATCTT
  • NM_001354620.2:c.-95delinsATCTT
  • NM_001354621.2:c.-622delinsATCTT
  • NM_001354622.2:c.-735delinsATCTT
  • NM_001354623.2:c.-723+2807delinsATCTT
  • NM_001354624.2:c.-632delinsATCTT
  • NM_001354625.2:c.-535delinsATCTT
  • NM_001354626.2:c.-632delinsATCTT
  • NM_001354627.2:c.-632delinsATCTT
  • NM_001354628.2:c.195delinsATCTT
  • NM_001354629.2:c.195delinsATCTT
  • NM_001354630.2:c.195delinsATCTT
  • NP_000240.1:p.Thr66fs
  • NP_001245200.1:p.Thr66fs
  • NP_001341557.1:p.Thr66fs
  • NP_001341558.1:p.Thr66fs
  • NP_001341559.1:p.Thr66fs
  • LRG_216:g.8348delinsATCTT
  • NC_000003.11:g.37038188delinsATCTT
  • NM_000249.3:c.195delCinsATCTT
Protein change:
T66fs
Links:
dbSNP: rs1553638868
NCBI 1000 Genomes Browser:
rs1553638868
Molecular consequence:
  • NM_001167617.3:c.-95delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-529delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-437delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-674delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-432delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-437delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-529delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-529delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-529delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-95delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-622delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-735delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-632delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-535delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-632delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-632delinsATCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.195delinsATCTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258271.2:c.195delinsATCTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354628.2:c.195delinsATCTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354629.2:c.195delinsATCTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354630.2:c.195delinsATCTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258273.2:c.-517+3034delinsATCTT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-723+2807delinsATCTT - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004189960Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jul 11, 2023) 		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 Myriad Genetics, Inc., SCV004189960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 29, 2024