NM_000251.3(MSH2):c.2637del (p.Gly880fs) AND Lynch syndrome 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 22, 2023
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:: RCV003450516.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2637del (p.Gly880fs)]

NM_000251.3(MSH2):c.2637del (p.Gly880fs)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2637del (p.Gly880fs)

HGVS:

NC_000002.12:g.47482781del
NG_007110.2:g.84658del
NM_000251.3:c.2637delMANE SELECT
NM_001258281.1:c.2439del
NM_001406631.1:c.2634+1910del
NM_001406632.1:c.2634+1910del
NM_001406633.1:c.2634+1910del
NM_001406634.1:c.2634+1910del
NM_001406635.1:c.2634+1910del
NM_001406636.1:c.2601+1910del
NM_001406637.1:c.2634+1910del
NM_001406638.1:c.2676del
NM_001406639.1:c.2634+1910del
NM_001406640.1:c.2634+1910del
NM_001406641.1:c.2637del
NM_001406642.1:c.2634+1910del
NM_001406643.1:c.2634+1910del
NM_001406644.1:c.2634+1910del
NM_001406645.1:c.2634+1910del
NM_001406646.1:c.2634+1910del
NM_001406647.1:c.2484+1910del
NM_001406649.1:c.2487del
NM_001406650.1:c.2487del
NM_001406651.1:c.2484+1910del
NM_001406652.1:c.2484+1910del
NM_001406654.1:c.2214+1910del
NM_001406656.1:c.1737+1910del
NM_001406658.1:c.1281del
NM_001406659.1:c.1281del
NM_001406660.1:c.1281del
NM_001406661.1:c.1281del
NM_001406662.1:c.1281del
NM_001406669.1:c.1278+1910del
NM_001406674.1:c.2634+1910del
NP_000242.1:p.Gly880Valfs
NP_000242.1:p.Gly880fs
NP_001245210.1:p.Gly814fs
NP_001393567.1:p.Gly893fs
NP_001393570.1:p.Gly880fs
NP_001393578.1:p.Gly830fs
NP_001393579.1:p.Gly830fs
NP_001393587.1:p.Gly428fs
NP_001393588.1:p.Gly428fs
NP_001393589.1:p.Gly428fs
NP_001393590.1:p.Gly428fs
NP_001393591.1:p.Gly428fs
LRG_218t1:c.2637del
LRG_218:g.84658del
LRG_218p1:p.Gly880Valfs
NC_000002.11:g.47709920del
NM_000251.2:c.2637delA
NR_176235.1:n.2673del
NR_176237.1:n.2673del
NR_176239.1:n.2673del
NR_176242.1:n.2673del
NR_176250.1:n.2413del

Protein change:

G428fs

Molecular consequence:

NM_000251.3:c.2637del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.2439del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.2676del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.2637del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.2487del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.2487del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406658.1:c.1281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406659.1:c.1281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406660.1:c.1281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406661.1:c.1281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406662.1:c.1281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406632.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406633.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406634.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406635.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406636.1:c.2601+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406637.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406639.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406640.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406642.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406643.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406644.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406645.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406646.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406647.1:c.2484+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406651.1:c.2484+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406652.1:c.2484+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406654.1:c.2214+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406656.1:c.1737+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406669.1:c.1278+1910del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406674.1:c.2634+1910del - intron variant - [Sequence Ontology: SO:0001627]
NR_176235.1:n.2673del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176237.1:n.2673del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176239.1:n.2673del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176242.1:n.2673del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176250.1:n.2413del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Lynch syndrome 1
Synonyms:: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

Recent activity

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cytochrome b, partial (mitochondrion) [Hemidactylus mindiae]
cytochrome b, partial (mitochondrion) [Hemidactylus mindiae]
gi|334367007|gb|AEE37258.1|

Protein
recombination activating protein 1, partial [Hemidactylus mindiae]
recombination activating protein 1, partial [Hemidactylus mindiae]
gi|510032245|gb|AGN32705.1|

Protein
Ameerega sp. JLB-2009a isolate 5 16S ribosomal RNA gene, partial sequence; mitoc...
Ameerega sp. JLB-2009a isolate 5 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|226856896|gb|FJ752295.1|

Nucleotide
Ameerega sp. JLB-2009a isolate 4 cytochrome b (cytb) gene, partial cds; mitochon...
Ameerega sp. JLB-2009a isolate 4 cytochrome b (cytb) gene, partial cds; mitochondrial
gi|226856961|gb|FJ752335.1|

Nucleotide
Tetramolopium mitiaroense isolate 7952 external transcribed spacer, partial sequ...
Tetramolopium mitiaroense isolate 7952 external transcribed spacer, partial sequence
gi|2308269676|gb|MZ511160.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004189562	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Nov 22, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004189562

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Likely pathogenic
(Nov 22, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004189562.1

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

Description

This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Jun 9, 2024

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