NM_000179.3(MSH6):c.3689C>G (p.Ala1230Gly) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 1, 2019
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:: RCV001030499.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3689C>G (p.Ala1230Gly)]

NM_000179.3(MSH6):c.3689C>G (p.Ala1230Gly)

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.3689C>G (p.Ala1230Gly)

HGVS:

NC_000002.12:g.47806246C>G
NG_007111.1:g.28100C>G
NG_008397.1:g.104430G>C
NM_000179.3:c.3689C>GMANE SELECT
NM_001281492.2:c.3299C>G
NM_001281493.2:c.2783C>G
NM_001281494.2:c.2783C>G
NP_000170.1:p.Ala1230Gly
NP_000170.1:p.Ala1230Gly
NP_001268421.1:p.Ala1100Gly
NP_001268422.1:p.Ala928Gly
NP_001268423.1:p.Ala928Gly
LRG_219t1:c.3689C>G
LRG_219:g.28100C>G
LRG_219p1:p.Ala1230Gly
NC_000002.11:g.48033385C>G
NM_000179.2:c.3689C>G
p.A1230G

Protein change:

A1100G

Links:

dbSNP: rs587782117

NCBI 1000 Genomes Browser:

rs587782117

Molecular consequence:

NM_000179.3:c.3689C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.3299C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.2783C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.2783C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001193653	Cancer Genomics Group, Japanese Foundation For Cancer Research	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 1, 2019)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 32566746

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001193653

Cancer Genomics Group, Japanese Foundation For Cancer Research

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 1, 2019)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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

Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.

Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, et al.

NPJ Breast Cancer. 2020;6:25. doi: 10.1038/s41523-020-0163-1.

PubMed [citation]

PMID:: 32566746
PMCID:: PMC7293299

Details of each submission

From Cancer Genomics Group, Japanese Foundation For Cancer Research, SCV001193653.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

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

Last Updated: Sep 29, 2024

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