NM_000251.3(MSH2):c.2488G>T (p.Val830Phe) AND Lynch syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 17, 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:: RCV003461883.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2488G>T (p.Val830Phe)]

NM_000251.3(MSH2):c.2488G>T (p.Val830Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2488G>T (p.Val830Phe)

HGVS:

NC_000002.12:g.47480725G>T
NG_007110.2:g.82602G>T
NM_000251.3:c.2488G>TMANE SELECT
NM_001258281.1:c.2290G>T
NM_001406631.1:c.2488G>T
NM_001406632.1:c.2488G>T
NM_001406633.1:c.2488G>T
NM_001406634.1:c.2488G>T
NM_001406635.1:c.2488G>T
NM_001406636.1:c.2455G>T
NM_001406637.1:c.2488G>T
NM_001406638.1:c.2527G>T
NM_001406639.1:c.2488G>T
NM_001406640.1:c.2488G>T
NM_001406641.1:c.2488G>T
NM_001406642.1:c.2488G>T
NM_001406643.1:c.2488G>T
NM_001406644.1:c.2488G>T
NM_001406645.1:c.2488G>T
NM_001406646.1:c.2488G>T
NM_001406647.1:c.2338G>T
NM_001406648.1:c.2488G>T
NM_001406649.1:c.2338G>T
NM_001406650.1:c.2338G>T
NM_001406651.1:c.2338G>T
NM_001406652.1:c.2338G>T
NM_001406653.1:c.2428G>T
NM_001406654.1:c.2068G>T
NM_001406656.1:c.1591G>T
NM_001406658.1:c.1132G>T
NM_001406659.1:c.1132G>T
NM_001406660.1:c.1132G>T
NM_001406661.1:c.1132G>T
NM_001406662.1:c.1132G>T
NM_001406669.1:c.1132G>T
NM_001406674.1:c.2488G>T
NP_000242.1:p.Val830Phe
NP_000242.1:p.Val830Phe
NP_001245210.1:p.Val764Phe
NP_001393560.1:p.Val830Phe
NP_001393561.1:p.Val830Phe
NP_001393562.1:p.Val830Phe
NP_001393563.1:p.Val830Phe
NP_001393564.1:p.Val830Phe
NP_001393565.1:p.Val819Phe
NP_001393566.1:p.Val830Phe
NP_001393567.1:p.Val843Phe
NP_001393568.1:p.Val830Phe
NP_001393569.1:p.Val830Phe
NP_001393570.1:p.Val830Phe
NP_001393571.1:p.Val830Phe
NP_001393572.1:p.Val830Phe
NP_001393573.1:p.Val830Phe
NP_001393574.1:p.Val830Phe
NP_001393575.1:p.Val830Phe
NP_001393576.1:p.Val780Phe
NP_001393577.1:p.Val830Phe
NP_001393578.1:p.Val780Phe
NP_001393579.1:p.Val780Phe
NP_001393580.1:p.Val780Phe
NP_001393581.1:p.Val780Phe
NP_001393582.1:p.Val810Phe
NP_001393583.1:p.Val690Phe
NP_001393585.1:p.Val531Phe
NP_001393587.1:p.Val378Phe
NP_001393588.1:p.Val378Phe
NP_001393589.1:p.Val378Phe
NP_001393590.1:p.Val378Phe
NP_001393591.1:p.Val378Phe
NP_001393598.1:p.Val378Phe
NP_001393603.1:p.Val830Phe
LRG_218t1:c.2488G>T
LRG_218:g.82602G>T
LRG_218p1:p.Val830Phe
NC_000002.11:g.47707864G>T
NM_000251.2:c.2488G>T
NR_176230.1:n.2524G>T
NR_176231.1:n.2492G>T
NR_176232.1:n.2524G>T
NR_176233.1:n.2366G>T
NR_176234.1:n.2524G>T
NR_176235.1:n.2524G>T
NR_176236.1:n.2524G>T
NR_176237.1:n.2524G>T
NR_176238.1:n.2657G>T
NR_176239.1:n.2524G>T
NR_176240.1:n.2319G>T
NR_176241.1:n.2524G>T
NR_176242.1:n.2524G>T
NR_176243.1:n.2374G>T
NR_176244.1:n.2524G>T
NR_176245.1:n.2524G>T
NR_176246.1:n.2524G>T
NR_176247.1:n.2524G>T
NR_176248.1:n.2524G>T
NR_176249.1:n.2754G>T
NR_176250.1:n.2264G>T

Protein change:

V378F

Molecular consequence:

NM_000251.3:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.2290G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406631.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406632.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406633.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406634.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406635.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406636.1:c.2455G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406637.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406638.1:c.2527G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406639.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406640.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406641.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406642.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406643.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406644.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406645.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406646.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406647.1:c.2338G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406648.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406649.1:c.2338G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406650.1:c.2338G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406651.1:c.2338G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406652.1:c.2338G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406653.1:c.2428G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406654.1:c.2068G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406656.1:c.1591G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406658.1:c.1132G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406659.1:c.1132G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406660.1:c.1132G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406661.1:c.1132G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406662.1:c.1132G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406669.1:c.1132G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406674.1:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_176230.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176231.1:n.2492G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176232.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176233.1:n.2366G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176234.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176235.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176236.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176237.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176238.1:n.2657G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176239.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176240.1:n.2319G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176241.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176242.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176243.1:n.2374G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176244.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176245.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176246.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176247.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176248.1:n.2524G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176249.1:n.2754G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176250.1:n.2264G>T - 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

Clear Turn Off Turn On

glyceraldehyde-3-phosphate dehydrogenase, partial [Pantoea sp. P0356]
glyceraldehyde-3-phosphate dehydrogenase, partial [Pantoea sp. P0356]
gi|222522785|gb|ACM63084.1|

Protein

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
SCV004196185	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 17, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004196185

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 17, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004196185.1

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

#	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

ClinVar

Relating variation to medicine