NM_000179.3(MSH6):c.12G>C (p.Gln4His) AND Lynch syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 28, 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:: RCV004007300.2

Allele description [Variation Report for NM_000179.3(MSH6):c.12G>C (p.Gln4His)]

NM_000179.3(MSH6):c.12G>C (p.Gln4His)

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.12G>C (p.Gln4His)

HGVS:

NC_000002.12:g.47783245G>C
NG_007111.1:g.5099G>C
NM_000179.3:c.12G>CMANE SELECT
NM_001281492.2:c.12G>C
NM_001281493.2:c.-725G>C
NM_001406795.1:c.12G>C
NM_001406796.1:c.12G>C
NM_001406798.1:c.12G>C
NM_001406799.1:c.-317G>C
NM_001406800.1:c.12G>C
NM_001406802.1:c.12G>C
NM_001406803.1:c.12G>C
NM_001406804.1:c.-44G>C
NM_001406807.1:c.-917G>C
NM_001406808.1:c.12G>C
NM_001406809.1:c.12G>C
NM_001406811.1:c.-725G>C
NM_001406812.1:c.-572G>C
NM_001406813.1:c.12G>C
NM_001406814.1:c.-983G>C
NM_001406816.1:c.-528G>C
NM_001406817.1:c.12G>C
NM_001407362.1:c.12G>C
NP_000170.1:p.Gln4His
NP_000170.1:p.Gln4His
NP_001268421.1:p.Gln4His
NP_001393724.1:p.Gln4His
NP_001393725.1:p.Gln4His
NP_001393727.1:p.Gln4His
NP_001393729.1:p.Gln4His
NP_001393731.1:p.Gln4His
NP_001393732.1:p.Gln4His
NP_001393737.1:p.Gln4His
NP_001393738.1:p.Gln4His
NP_001393742.1:p.Gln4His
NP_001393746.1:p.Gln4His
NP_001394291.1:p.Gln4His
LRG_219t1:c.12G>C
LRG_219:g.5099G>C
LRG_219p1:p.Gln4His
NC_000002.11:g.48010384G>C
NM_000179.2:c.12G>C
NR_176256.1:n.101G>C
NR_176257.1:n.101G>C
NR_176258.1:n.101G>C
NR_176259.1:n.101G>C
NR_176260.1:n.101G>C
NR_176261.1:n.101G>C

Protein change:

Q4H

Molecular consequence:

NM_001281493.2:c.-725G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000179.3:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406817.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407362.1:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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LOC120827374 [Gasterosteus aculeatus]
LOC120827374 [Gasterosteus aculeatus]
Gene ID:120827374

Gene
galnt16 [Poecilia reticulata]
galnt16 [Poecilia reticulata]
Gene ID:103458217

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004818641	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Mar 28, 2023)	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

SCV004818641

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Mar 28, 2023)

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	unknown	1	not provided	not provided	108544	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 All of Us Research Program, National Institutes of Health, SCV004818641.1

#	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	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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