NM_000249.4(MLH1):c.15_28del (p.Gly6fs) 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:: RCV000075274.3

Allele description [Variation Report for NM_000249.4(MLH1):c.15_28del (p.Gly6fs)]

NM_000249.4(MLH1):c.15_28del (p.Gly6fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.15_28del (p.Gly6fs)

HGVS:

NC_000003.12:g.36993562_36993575del
NG_007109.2:g.5213_5226del
NG_008418.1:g.4733_4746del
NM_000249.4:c.15_28delMANE SELECT
NM_001167617.3:c.-502_-489del
NM_001167618.3:c.-931_-918del
NM_001167619.3:c.-844_-831del
NM_001258271.2:c.15_28del
NM_001258273.2:c.-618_-605del
NM_001258274.3:c.-1081_-1068del
NM_001354615.2:c.-612_-599del
NM_001354616.2:c.-612_-599del
NM_001354617.2:c.-704_-691del
NM_001354618.2:c.-936_-923del
NM_001354619.2:c.-1060_-1047del
NM_001354620.2:c.-270_-257del
NM_001354621.2:c.-1029_-1016del
NM_001354622.2:c.-1142_-1129del
NM_001354623.2:c.-1051_-1038del
NM_001354624.2:c.-812_-799del
NM_001354625.2:c.-710_-697del
NM_001354626.2:c.-807_-794del
NM_001354627.2:c.-1039_-1026del
NM_001354628.2:c.15_28del
NM_001354629.2:c.15_28del
NM_001354630.2:c.15_28del
NP_000240.1:p.Gly6fs
NP_001245200.1:p.Gly6fs
NP_001341557.1:p.Gly6fs
NP_001341558.1:p.Gly6fs
NP_001341559.1:p.Gly6fs
LRG_216:g.5213_5226del
NC_000003.11:g.37035053_37035066del

Protein change:

G6fs

Links:

dbSNP: rs63751891

NCBI 1000 Genomes Browser:

rs63751891

Molecular consequence:

NM_001167617.3:c.-502_-489del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-931_-918del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-844_-831del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-618_-605del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-1081_-1068del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-612_-599del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-612_-599del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-704_-691del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-936_-923del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-1060_-1047del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-270_-257del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-1029_-1016del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-1142_-1129del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-1051_-1038del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-812_-799del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-710_-697del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-807_-794del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-1039_-1026del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.15_28del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.15_28del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.15_28del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.15_28del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.15_28del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000106221	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

SCV000106221

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v1.9)

Pathogenic
(Sep 5, 2013)

germline

research

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	research

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000106221.3

#	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: Jan 7, 2023

ClinVar

Relating variation to medicine