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NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 13, 2021
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:
RCV002256105.1

Allele description [Variation Report for NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA]

NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA
HGVS:
  • NC_000003.12:g.37025629_37025630insTTTTTA
  • NG_007109.2:g.37280_37281insTTTTTA
  • NM_000249.4:c.1039-8_1039-7insTTTTTAMANE SELECT
  • NM_001167617.3:c.745-8_745-7insTTTTTA
  • NM_001167618.3:c.316-8_316-7insTTTTTA
  • NM_001167619.3:c.316-8_316-7insTTTTTA
  • NM_001258271.2:c.1039-8_1039-7insTTTTTA
  • NM_001258273.2:c.316-8_316-7insTTTTTA
  • NM_001258274.3:c.316-8_316-7insTTTTTA
  • NM_001354615.2:c.316-8_316-7insTTTTTA
  • NM_001354616.2:c.316-8_316-7insTTTTTA
  • NM_001354617.2:c.316-8_316-7insTTTTTA
  • NM_001354618.2:c.316-8_316-7insTTTTTA
  • NM_001354619.2:c.316-8_316-7insTTTTTA
  • NM_001354620.2:c.745-8_745-7insTTTTTA
  • NM_001354621.2:c.16-8_16-7insTTTTTA
  • NM_001354622.2:c.16-8_16-7insTTTTTA
  • NM_001354623.2:c.16-8_16-7insTTTTTA
  • NM_001354624.2:c.-36-8_-36-7insTTTTTA
  • NM_001354625.2:c.-36-8_-36-7insTTTTTA
  • NM_001354626.2:c.-36-8_-36-7insTTTTTA
  • NM_001354627.2:c.-36-8_-36-7insTTTTTA
  • NM_001354628.2:c.1039-8_1039-7insTTTTTA
  • NM_001354629.2:c.940-8_940-7insTTTTTA
  • NM_001354630.2:c.1039-8_1039-7insTTTTTA
  • LRG_216t1:c.1039-8_1039-7insTTTTTA
  • LRG_216:g.37280_37281insTTTTTA
  • NC_000003.11:g.37067120_37067121insTTTTTA
  • NM_000249.3:c.1039-8_1039-7insTTTTTA
Links:
dbSNP: rs535965616
NCBI 1000 Genomes Browser:
rs535965616
Molecular consequence:
  • NM_000249.4:c.1039-8_1039-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167617.3:c.745-8_745-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167618.3:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167619.3:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258271.2:c.1039-8_1039-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258273.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258274.3:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354615.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354616.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354617.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354618.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354619.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354620.2:c.745-8_745-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354621.2:c.16-8_16-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354622.2:c.16-8_16-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.16-8_16-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354624.2:c.-36-8_-36-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.-36-8_-36-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.2:c.-36-8_-36-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354627.2:c.-36-8_-36-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.2:c.1039-8_1039-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354629.2:c.940-8_940-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354630.2:c.1039-8_1039-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002528614Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely benign
(May 13, 2021) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002528614.1

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

Last Updated: Sep 29, 2024