NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr) AND Lynch syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 20, 2015
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:: RCV000210134.3

Allele description [Variation Report for NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr)]

NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr)

HGVS:

NC_000002.12:g.47805671G>A
NG_007111.1:g.27525G>A
NG_008397.1:g.105005C>T
NM_000179.3:c.3610G>AMANE SELECT
NM_001281492.2:c.3220G>A
NM_001281493.2:c.2704G>A
NM_001281494.2:c.2704G>A
NP_000170.1:p.Ala1204Thr
NP_000170.1:p.Ala1204Thr
NP_001268421.1:p.Ala1074Thr
NP_001268422.1:p.Ala902Thr
NP_001268423.1:p.Ala902Thr
LRG_219t1:c.3610G>A
LRG_219:g.27525G>A
LRG_219p1:p.Ala1204Thr
NC_000002.11:g.48032810G>A
NM_000179.2:c.3610G>A

Protein change:

A1074T

Links:

dbSNP: rs869312799

NCBI 1000 Genomes Browser:

rs869312799

Molecular consequence:

NM_000179.3:c.3610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.3220G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.2704G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.2704G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000266210	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Shirts et al. (Genet Med 2016))	Uncertain significance (Nov 20, 2015)	germline	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

SCV000266210

University of Washington Department of Laboratory Medicine, University of Washington

criteria provided, single submitter

(Shirts et al. (Genet Med 2016))

Uncertain significance
(Nov 20, 2015)

germline

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	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.

PubMed [citation]

PMID:: 26845104

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000266210.1

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

Last Updated: May 1, 2024

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