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:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001774873	Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	no assertion criteria provided	Pathogenic (Aug 9, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001774873

Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences

no assertion criteria provided

Pathogenic
(Aug 9, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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