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NM_000249.4(MLH1):c.1483dup (p.Thr495fs) AND Endometrial carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 21, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003128177.1

Allele description [Variation Report for NM_000249.4(MLH1):c.1483dup (p.Thr495fs)]

NM_000249.4(MLH1):c.1483dup (p.Thr495fs)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.1483dup (p.Thr495fs)
HGVS:
  • NC_000003.12:g.37028857dup
  • NG_007109.2:g.40508dup
  • NM_000249.4:c.1483dupMANE SELECT
  • NM_001167617.3:c.1189dup
  • NM_001167618.3:c.760dup
  • NM_001167619.3:c.760dup
  • NM_001258271.2:c.1483dup
  • NM_001258273.2:c.760dup
  • NM_001258274.3:c.760dup
  • NM_001354615.2:c.760dup
  • NM_001354616.2:c.760dup
  • NM_001354617.2:c.760dup
  • NM_001354618.2:c.760dup
  • NM_001354619.2:c.760dup
  • NM_001354620.2:c.1189dup
  • NM_001354621.2:c.460dup
  • NM_001354622.2:c.460dup
  • NM_001354623.2:c.460dup
  • NM_001354624.2:c.409dup
  • NM_001354625.2:c.409dup
  • NM_001354626.2:c.409dup
  • NM_001354627.2:c.409dup
  • NM_001354628.2:c.1483dup
  • NM_001354629.2:c.1384dup
  • NM_001354630.2:c.1483dup
  • NP_000240.1:p.Thr495Asnfs
  • NP_000240.1:p.Thr495fs
  • NP_001161089.1:p.Thr397fs
  • NP_001161090.1:p.Thr254fs
  • NP_001161091.1:p.Thr254fs
  • NP_001245200.1:p.Thr495fs
  • NP_001245202.1:p.Thr254fs
  • NP_001245203.1:p.Thr254fs
  • NP_001341544.1:p.Thr254fs
  • NP_001341545.1:p.Thr254fs
  • NP_001341546.1:p.Thr254fs
  • NP_001341547.1:p.Thr254fs
  • NP_001341548.1:p.Thr254fs
  • NP_001341549.1:p.Thr397fs
  • NP_001341550.1:p.Thr154fs
  • NP_001341551.1:p.Thr154fs
  • NP_001341552.1:p.Thr154fs
  • NP_001341553.1:p.Thr137fs
  • NP_001341554.1:p.Thr137fs
  • NP_001341555.1:p.Thr137fs
  • NP_001341556.1:p.Thr137fs
  • NP_001341557.1:p.Thr495fs
  • NP_001341558.1:p.Thr462fs
  • NP_001341559.1:p.Thr495fs
  • LRG_216t1:c.1483dup
  • LRG_216:g.40508dup
  • LRG_216p1:p.Thr495Asnfs
  • NC_000003.11:g.37070348dup
  • NM_000249.3:c.1483dup
Protein change:
T137fs
Molecular consequence:
  • NM_000249.4:c.1483dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167617.3:c.1189dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167618.3:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167619.3:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258271.2:c.1483dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258273.2:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258274.3:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354615.2:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354616.2:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354617.2:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354618.2:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354619.2:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354620.2:c.1189dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354621.2:c.460dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354622.2:c.460dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354623.2:c.460dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354624.2:c.409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354625.2:c.409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354626.2:c.409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354627.2:c.409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354628.2:c.1483dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354629.2:c.1384dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354630.2:c.1483dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Endometrial carcinoma
Synonyms:
Endometrial carcinoma, somatic
Identifiers:
MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003804366CZECANCA consortium
no assertion criteria provided
Pathogenic
(Feb 21, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Slavicgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CZECANCA consortium, SCV003804366.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Slavic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 25, 2023