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NM_000249.4(MLH1):c.393del (p.Asp132fs) AND Breast carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 2021
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:
RCV001554268.1

Allele description [Variation Report for NM_000249.4(MLH1):c.393del (p.Asp132fs)]

NM_000249.4(MLH1):c.393del (p.Asp132fs)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.393del (p.Asp132fs)
HGVS:
  • NC_000003.12:g.37007003del
  • NG_007109.2:g.18654del
  • NM_000249.4:c.393delMANE SELECT
  • NM_001167617.3:c.99del
  • NM_001167618.3:c.-331del
  • NM_001167619.3:c.-239del
  • NM_001258271.2:c.393del
  • NM_001258273.2:c.-331del
  • NM_001258274.3:c.-331del
  • NM_001354615.2:c.-239del
  • NM_001354616.2:c.-239del
  • NM_001354617.2:c.-331del
  • NM_001354618.2:c.-331del
  • NM_001354619.2:c.-331del
  • NM_001354620.2:c.99del
  • NM_001354621.2:c.-424del
  • NM_001354622.2:c.-537del
  • NM_001354623.2:c.-537del
  • NM_001354624.2:c.-434del
  • NM_001354625.2:c.-342del
  • NM_001354626.2:c.-434del
  • NM_001354627.2:c.-434del
  • NM_001354628.2:c.393del
  • NM_001354629.2:c.294del
  • NM_001354630.2:c.393del
  • NP_000240.1:p.Asp132fs
  • NP_001161089.1:p.Asp34fs
  • NP_001245200.1:p.Asp132fs
  • NP_001341549.1:p.Asp34fs
  • NP_001341557.1:p.Asp132fs
  • NP_001341558.1:p.Asp99fs
  • NP_001341559.1:p.Asp132fs
  • LRG_216t1:c.393del
  • LRG_216:g.18654del
  • NC_000003.11:g.37048494del
  • NM_000249.3:c.393del
  • NM_000249.3:c.393delA
Protein change:
D132fs
Links:
dbSNP: rs2081922847
NCBI 1000 Genomes Browser:
rs2081922847
Molecular consequence:
  • NM_001167618.3:c.-331del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-239del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-331del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-331del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-239del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-239del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-331del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-331del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-331del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-424del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-537del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-537del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-434del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-342del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-434del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-434del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.393del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167617.3:c.99del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258271.2:c.393del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354620.2:c.99del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354628.2:c.393del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354629.2:c.294del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354630.2:c.393del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Breast carcinoma
Synonyms:
Carcinoma of breast
Identifiers:
MONDO: MONDO:0004989; MedGen: C0678222; Human Phenotype Ontology: HP:0003002

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001774873Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
no assertion criteria provided
Pathogenic
(Aug 9, 2021)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, SCV001774873.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024