NM_000249.4(MLH1):c.2251_2256del (p.Lys751_Val752del) AND Lynch-like syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2019
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:: RCV001250010.1

Allele description [Variation Report for NM_000249.4(MLH1):c.2251_2256del (p.Lys751_Val752del)]

NM_000249.4(MLH1):c.2251_2256del (p.Lys751_Val752del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.2251_2256del (p.Lys751_Val752del)

HGVS:

NC_000003.12:g.37050633_37050638del
NG_007109.2:g.62284_62289del
NG_053016.1:g.131181_131186del
NM_000249.4:c.2251_2256delMANE SELECT
NM_001167617.3:c.1957_1962del
NM_001167618.3:c.1528_1533del
NM_001167619.3:c.1528_1533del
NM_001258271.2:c.2044_2049del
NM_001258273.2:c.1528_1533del
NM_001258274.3:c.1528_1533del
NM_001354615.2:c.1528_1533del
NM_001354616.2:c.1528_1533del
NM_001354617.2:c.1528_1533del
NM_001354618.2:c.1528_1533del
NM_001354619.2:c.1528_1533del
NM_001354620.2:c.1957_1962del
NM_001354621.2:c.1228_1233del
NM_001354622.2:c.1228_1233del
NM_001354623.2:c.1228_1233del
NM_001354624.2:c.1177_1182del
NM_001354625.2:c.1177_1182del
NM_001354626.2:c.1177_1182del
NM_001354627.2:c.1177_1182del
NM_001354628.2:c.2158_2163del
NM_001354629.2:c.2152_2157del
NM_001354630.2:c.2086_2091del
NP_000240.1:p.Lys751_Val752del
NP_001161089.1:p.Lys653_Val654del
NP_001161090.1:p.Lys510_Val511del
NP_001161091.1:p.Lys510_Val511del
NP_001245200.1:p.Lys682_Val683del
NP_001245202.1:p.Lys510_Val511del
NP_001245203.1:p.Lys510_Val511del
NP_001341544.1:p.Lys510_Val511del
NP_001341545.1:p.Lys510_Val511del
NP_001341546.1:p.Lys510_Val511del
NP_001341547.1:p.Lys510_Val511del
NP_001341548.1:p.Lys510_Val511del
NP_001341549.1:p.Lys653_Val654del
NP_001341550.1:p.Lys410_Val411del
NP_001341551.1:p.Lys410_Val411del
NP_001341552.1:p.Lys410_Val411del
NP_001341553.1:p.Lys393_Val394del
NP_001341554.1:p.Lys393_Val394del
NP_001341555.1:p.Lys393_Val394del
NP_001341556.1:p.Lys393_Val394del
NP_001341557.1:p.Lys720_Val721del
NP_001341558.1:p.Lys718_Val719del
NP_001341559.1:p.Lys696_Val697del
LRG_216t1:c.2251_2256del
LRG_216:g.62284_62289del
NC_000003.11:g.37092124_37092129del
NM_000249.3:c.2251_2256del

Links:

dbSNP: rs2085653401

NCBI 1000 Genomes Browser:

rs2085653401

Molecular consequence:

NM_000249.4:c.2251_2256del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001167617.3:c.1957_1962del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001167618.3:c.1528_1533del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001167619.3:c.1528_1533del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001258271.2:c.2044_2049del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001258273.2:c.1528_1533del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001258274.3:c.1528_1533del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354615.2:c.1528_1533del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354616.2:c.1528_1533del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354617.2:c.1528_1533del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354618.2:c.1528_1533del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354619.2:c.1528_1533del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354620.2:c.1957_1962del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354621.2:c.1228_1233del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354622.2:c.1228_1233del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354623.2:c.1228_1233del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354624.2:c.1177_1182del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354625.2:c.1177_1182del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354626.2:c.1177_1182del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354627.2:c.1177_1182del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354628.2:c.2158_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354629.2:c.2152_2157del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354630.2:c.2086_2091del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Lynch-like syndrome
Identifiers:

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Homo sapiens nucleoside phosphorylase, mRNA (cDNA clone MGC:117396 IMAGE:3859664...
Homo sapiens nucleoside phosphorylase, mRNA (cDNA clone MGC:117396 IMAGE:3859664), complete cds
gi|76779254|gb|BC106074.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001423911	Constitutional Genetics Lab, Leon Berard Cancer Center	no assertion criteria provided	Pathogenic (Jul 1, 2019)	somatic	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001423911

Constitutional Genetics Lab, Leon Berard Cancer Center

no assertion criteria provided

Pathogenic
(Jul 1, 2019)

somatic

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Constitutional Genetics Lab, Leon Berard Cancer Center, SCV001423911.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 5, 2022

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