NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) AND not specified

Germline classification:: Uncertain significance (1 submission)
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:: RCV000202077.9

Allele description [Variation Report for NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)]

NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)

HGVS:

NC_000002.12:g.47806301_47806330del
NG_007111.1:g.28155_28184del
NG_008397.1:g.104350_104379del
NM_000179.3:c.3744_3773delMANE SELECT
NM_001281492.2:c.3354_3383del
NM_001281493.2:c.2838_2867del
NM_001281494.2:c.2838_2867del
NP_000170.1:p.His1248_Ser1257del
NP_000170.1:p.His1248_Ser1257del
NP_001268421.1:p.His1118_Ser1127del
NP_001268422.1:p.His946_Ser955del
NP_001268423.1:p.His946_Ser955del
LRG_219t1:c.3744_3773del
LRG_219:g.28155_28184del
LRG_219p1:p.His1248_Ser1257del
NC_000002.11:g.48033436_48033465del
NC_000002.11:g.48033440_48033469del
NM_000179.2:c.3744_3773del
NM_000179.2:c.3744_3773del
NM_000179.2:c.3744_3773del30
NM_000179.2:c.3744_3773del30
NM_000179.2:c.3744_3773delCTACCATTCATTAGTAGAAGATTATTCTCA

Links:

dbSNP: rs863225412

NCBI 1000 Genomes Browser:

rs863225412

Molecular consequence:

NM_000179.3:c.3744_3773del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001281492.2:c.3354_3383del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001281493.2:c.2838_2867del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001281494.2:c.2838_2867del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000257276	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Uncertain significance	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000257276

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Uncertain significance

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000257276.1

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

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

Last Updated: Sep 29, 2024

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