NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs) AND Breast carcinoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 9, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001554267.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)]

NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)

HGVS:

NC_000002.12:g.47806289_47806292dup
NG_007111.1:g.28143_28146dup
NG_008397.1:g.104386_104389dup
NM_000179.3:c.3732_3735dupMANE SELECT
NM_001281492.2:c.3342_3345dup
NM_001281493.2:c.2826_2829dup
NM_001281494.2:c.2826_2829dup
NP_000170.1:p.Ser1246fs
NP_000170.1:p.Ser1246fs
NP_001268421.1:p.Ser1116fs
NP_001268422.1:p.Ser944fs
NP_001268423.1:p.Ser944fs
LRG_219t1:c.3732_3735dup
LRG_219:g.28143_28146dup
LRG_219p1:p.Ser1246fs
NC_000002.11:g.48033425_48033426insTTAT
NC_000002.11:g.48033428_48033431dup
NM_000179.2:c.3732_3735dup
NM_000179.2:c.3732_3735dupATTT

Protein change:

S1116fs

Links:

dbSNP: rs1553333072

NCBI 1000 Genomes Browser:

rs1553333072

Molecular consequence:

NM_000179.3:c.3732_3735dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.3342_3345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.2826_2829dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.2826_2829dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Breast carcinoma
Synonyms:: Carcinoma of breast
Identifiers:: MONDO: MONDO:0004989; MedGen: C0678222; Human Phenotype Ontology: HP:0003002

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001774872	Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	no assertion criteria provided	Pathogenic (Aug 9, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001774872

Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences

no assertion criteria provided

Pathogenic
(Aug 9, 2021)

germline

clinical testing

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	not provided	not provided	clinical testing

Details of each submission

From Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, SCV001774872.1

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

#	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	not provided	not provided

Last Updated: Oct 8, 2024

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