NM_000535.7(PMS2):c.2117del (p.Lys706fs) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 25, 2016
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:: RCV000506059.8

Allele description [Variation Report for NM_000535.7(PMS2):c.2117del (p.Lys706fs)]

NM_000535.7(PMS2):c.2117del (p.Lys706fs)

Gene:

PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_000535.7(PMS2):c.2117del (p.Lys706fs)

HGVS:

NC_000007.13:g.6022512del
NC_000007.14:g.5982882del
NG_008466.1:g.31226del
NM_000535.7:c.2117delMANE SELECT
NM_001322003.2:c.1712del
NM_001322004.2:c.1712del
NM_001322005.2:c.1712del
NM_001322006.2:c.1961del
NM_001322007.2:c.1799del
NM_001322008.2:c.1799del
NM_001322009.2:c.1712del
NM_001322010.2:c.1556del
NM_001322011.2:c.1184del
NM_001322012.2:c.1184del
NM_001322013.2:c.1544del
NM_001322014.2:c.2117del
NM_001322015.2:c.1808del
NP_000526.2:p.Lys706fs
NP_001308932.1:p.Lys571fs
NP_001308933.1:p.Lys571fs
NP_001308934.1:p.Lys571fs
NP_001308935.1:p.Lys654fs
NP_001308936.1:p.Lys600fs
NP_001308937.1:p.Lys600fs
NP_001308938.1:p.Lys571fs
NP_001308939.1:p.Lys519fs
NP_001308940.1:p.Lys395fs
NP_001308941.1:p.Lys395fs
NP_001308942.1:p.Lys515fs
NP_001308943.1:p.Lys706fs
NP_001308944.1:p.Lys603fs
LRG_161t1:c.2117del
LRG_161:g.31226del
NC_000007.13:g.6022512del
NC_000007.13:g.6022512delT
NC_000007.13:g.6022513del
NC_000007.14:g.5982881delT
NM_000535.5:c.2117delA
NM_000535.6:c.2117delA
NM_000535.7:c.2117delAMANE SELECT
NR_136154.1:n.2204del
p.K706Sfs*19
p.Lys706SerfsX19
p.Lys706fs

Protein change:

K395fs

Links:

dbSNP: rs587782704

NCBI 1000 Genomes Browser:

rs587782704

Molecular consequence:

NM_000535.7:c.2117del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322003.2:c.1712del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322004.2:c.1712del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322005.2:c.1712del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322006.2:c.1961del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322007.2:c.1799del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322008.2:c.1799del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322009.2:c.1712del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322010.2:c.1556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322011.2:c.1184del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322012.2:c.1184del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322013.2:c.1544del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322014.2:c.2117del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322015.2:c.1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_136154.1:n.2204del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000604886	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (Aug 25, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000604886

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(Aug 25, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000604886.1

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

Last Updated: Apr 20, 2024

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