NM_000249.4(MLH1):c.2196_2219del (p.Lys732_Ile740delinsAsn) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 3, 2017
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:: RCV002425595.2

Allele description [Variation Report for NM_000249.4(MLH1):c.2196_2219del (p.Lys732_Ile740delinsAsn)]

NM_000249.4(MLH1):c.2196_2219del (p.Lys732_Ile740delinsAsn)

Gene:

MLH1:mutL homolog 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.2196_2219del (p.Lys732_Ile740delinsAsn)

HGVS:

NC_000003.12:g.37050578_37050601del
NG_007109.2:g.62229_62252del
NM_000249.4:c.2196_2219delMANE SELECT
NM_001167617.3:c.1902_1925del
NM_001167618.3:c.1473_1496del
NM_001167619.3:c.1473_1496del
NM_001258271.2:c.1989_2012del
NM_001258273.2:c.1473_1496del
NM_001258274.3:c.1473_1496del
NM_001354615.2:c.1473_1496del
NM_001354616.2:c.1473_1496del
NM_001354617.2:c.1473_1496del
NM_001354618.2:c.1473_1496del
NM_001354619.2:c.1473_1496del
NM_001354620.2:c.1902_1925del
NM_001354621.2:c.1173_1196del
NM_001354622.2:c.1173_1196del
NM_001354623.2:c.1173_1196del
NM_001354624.2:c.1122_1145del
NM_001354625.2:c.1122_1145del
NM_001354626.2:c.1122_1145del
NM_001354627.2:c.1122_1145del
NM_001354628.2:c.2103_2126del
NM_001354629.2:c.2097_2120del
NM_001354630.2:c.2031_2054del
NP_000240.1:p.Lys732_Ile740delinsAsn
NP_000240.1:p.Lys732_Ile740delinsAsn
NP_001161089.1:p.Lys634_Ile642delinsAsn
NP_001161090.1:p.Lys491_Ile499delinsAsn
NP_001161091.1:p.Lys491_Ile499delinsAsn
NP_001245200.1:p.Lys663_Ile671delinsAsn
NP_001245202.1:p.Lys491_Ile499delinsAsn
NP_001245203.1:p.Lys491_Ile499delinsAsn
NP_001341544.1:p.Lys491_Ile499delinsAsn
NP_001341545.1:p.Lys491_Ile499delinsAsn
NP_001341546.1:p.Lys491_Ile499delinsAsn
NP_001341547.1:p.Lys491_Ile499delinsAsn
NP_001341548.1:p.Lys491_Ile499delinsAsn
NP_001341549.1:p.Lys634_Ile642delinsAsn
NP_001341550.1:p.Lys391_Ile399delinsAsn
NP_001341551.1:p.Lys391_Ile399delinsAsn
NP_001341552.1:p.Lys391_Ile399delinsAsn
NP_001341553.1:p.Lys374_Ile382delinsAsn
NP_001341554.1:p.Lys374_Ile382delinsAsn
NP_001341555.1:p.Lys374_Ile382delinsAsn
NP_001341556.1:p.Lys374_Ile382delinsAsn
NP_001341557.1:p.Lys701_Ile709delinsAsn
NP_001341558.1:p.Lys699_Ile707delinsAsn
NP_001341559.1:p.Lys677_Ile685delinsAsn
LRG_216t1:c.2196_2219del24
LRG_216:g.62229_62252del
LRG_216p1:p.Lys732_Ile740delinsAsn
NC_000003.11:g.37092069_37092092del
NM_000249.3:c.2196_2219del24
NM_000249.3:c.2196_2219delACATTTCACAGAAGATGGAAATAT

Molecular consequence:

NM_000249.4:c.2196_2219del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001167617.3:c.1902_1925del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001167618.3:c.1473_1496del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001167619.3:c.1473_1496del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001258271.2:c.1989_2012del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001258273.2:c.1473_1496del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001258274.3:c.1473_1496del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354615.2:c.1473_1496del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354616.2:c.1473_1496del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354617.2:c.1473_1496del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354618.2:c.1473_1496del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354619.2:c.1473_1496del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354620.2:c.1902_1925del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354621.2:c.1173_1196del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354622.2:c.1173_1196del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354623.2:c.1173_1196del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354624.2:c.1122_1145del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354625.2:c.1122_1145del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354626.2:c.1122_1145del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354627.2:c.1122_1145del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354628.2:c.2103_2126del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354629.2:c.2097_2120del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354630.2:c.2031_2054del - inframe_indel - [Sequence Ontology: SO:0001820]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002730680	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 3, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002730680

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 3, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002730680.2

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

Description

The c.2196_2219del24 variant (also known as c.2196_2219delACATTTCACAGAAGATGGAAATAT and p.K732_I740delinsN) is located in coding exon 19 of the MLH1 gene. This variant results from an in-frame deletion of 24 nucleotides at nucleotide positions 2196 to 2219. This results in the deletion of nine amino acids and insertion of an asparagine (N) residue between codons 731 and 741 in the protein interaction domain. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine