NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 1, 2020
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:: RCV001374485.1

Allele description [Variation Report for NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)]

NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)

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.80C>T (p.Pro27Leu)

HGVS:

NC_000002.12:g.47403271C>T
NG_007110.2:g.5148C>T
NM_000251.3:c.80C>TMANE SELECT
NM_001258281.1:c.-30-89C>T
NP_000242.1:p.Pro27Leu
NP_000242.1:p.Pro27Leu
LRG_218t1:c.80C>T
LRG_218:g.5148C>T
LRG_218p1:p.Pro27Leu
NC_000002.11:g.47630410C>T
NM_000251.1:c.80C>T
NM_000251.2:c.80C>T
p.P27L

Protein change:

P27L

Links:

dbSNP: rs750746034

NCBI 1000 Genomes Browser:

rs750746034

Molecular consequence:

NM_001258281.1:c.-30-89C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000251.3:c.80C>T - 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
SCV001438637	Molecular Oncology Research Center, Barretos Cancer Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 1, 2020)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001438637

Molecular Oncology Research Center, Barretos Cancer Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 1, 2020)

germline

research

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	1	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

Details of each submission

From Molecular Oncology Research Center, Barretos Cancer Hospital, SCV001438637.1

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

#	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		1	not provided	1	not provided

Last Updated: Nov 30, 2024

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