NM_000249.4(MLH1):c.61del (p.Ala21fs) AND Lynch syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 5, 2013
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000075785.4

Allele description [Variation Report for NM_000249.4(MLH1):c.61del (p.Ala21fs)]

NM_000249.4(MLH1):c.61del (p.Ala21fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.61del (p.Ala21fs)

HGVS:

NC_000003.12:g.36993608del
NG_007109.2:g.5259del
NG_008418.1:g.4698del
NM_000249.4:c.61delMANE SELECT
NM_001167617.3:c.-456del
NM_001167618.3:c.-885del
NM_001167619.3:c.-798del
NM_001258271.2:c.61del
NM_001258273.2:c.-572del
NM_001258274.3:c.-1035del
NM_001354615.2:c.-566del
NM_001354616.2:c.-566del
NM_001354617.2:c.-658del
NM_001354618.2:c.-890del
NM_001354619.2:c.-1014del
NM_001354620.2:c.-224del
NM_001354621.2:c.-983del
NM_001354622.2:c.-1096del
NM_001354623.2:c.-1005del
NM_001354624.2:c.-766del
NM_001354625.2:c.-664del
NM_001354626.2:c.-761del
NM_001354627.2:c.-993del
NM_001354628.2:c.61del
NM_001354629.2:c.61del
NM_001354630.2:c.61del
NP_000240.1:p.Ala21fs
NP_001245200.1:p.Ala21fs
NP_001341557.1:p.Ala21fs
NP_001341558.1:p.Ala21fs
NP_001341559.1:p.Ala21fs
LRG_216:g.5259del
NC_000003.11:g.37035098del
NC_000003.11:g.37035099del

Protein change:

A21fs

Links:

dbSNP: rs63750581

NCBI 1000 Genomes Browser:

rs63750581

Molecular consequence:

NM_001167617.3:c.-456del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-885del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-798del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-572del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-1035del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-566del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-566del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-658del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-890del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-1014del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-224del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-983del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-1096del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-1005del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-766del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-664del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-761del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-993del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.61del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.61del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.61del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.61del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.61del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Lynch syndrome
Identifiers:: MONDO: MONDO:0005835; MedGen: C4552100

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Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA
Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA
gi|1519313757|ref|NM_153214.3|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000106795	International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	reviewed by expert panel (Guidelines v1.9)	Pathogenic (Sep 5, 2013)	germline	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000106795

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v1.9)

Pathogenic
(Sep 5, 2013)

germline

research

Citation Link

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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	research

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000106795.3

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

Description

Coding sequence variation resulting in a stop codon

#	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: Sep 29, 2024

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