NM_000535.7(PMS2):c.1621= (p.Lys541=) AND not provided

Clinical significance:Benign (Last evaluated: Jul 13, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000034619.7

Allele description [Variation Report for NM_000535.7(PMS2):c.1621= (p.Lys541=)]

NM_000535.7(PMS2):c.1621= (p.Lys541=)

Gene:
PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_000535.7(PMS2):c.1621= (p.Lys541=)
Other names:
p.E541K:GAA>AAA
HGVS:
  • NC_000007.14:g.5987144=
  • NG_008466.1:g.26963G>A
  • NM_000535.7:c.1621=MANE SELECT
  • NM_001322003.2:c.1216=
  • NM_001322004.2:c.1216=
  • NM_001322005.2:c.1216=
  • NM_001322006.2:c.1465=
  • NM_001322007.1:c.1303=
  • NM_001322008.2:c.1303=
  • NM_001322009.2:c.1216=
  • NM_001322010.2:c.1060=
  • NM_001322011.2:c.688=
  • NM_001322012.2:c.688=
  • NM_001322013.2:c.1048=
  • NM_001322014.2:c.1621=
  • NM_001322015.2:c.1312=
  • NP_000526.2:p.Lys541=
  • NP_001308932.1:p.Lys406=
  • NP_001308933.1:p.Lys406=
  • NP_001308934.1:p.Lys406=
  • NP_001308935.1:p.Lys489=
  • NP_001308936.1:p.Lys435=
  • NP_001308937.1:p.Lys435=
  • NP_001308938.1:p.Lys406=
  • NP_001308939.1:p.Lys354=
  • NP_001308940.1:p.Lys230=
  • NP_001308941.1:p.Lys230=
  • NP_001308942.1:p.Lys350=
  • NP_001308943.1:p.Lys541=
  • NP_001308944.1:p.Lys438=
  • LRG_161t1:c.1621G>A
  • LRG_161:g.26963G>A
  • NC_000007.13:g.6026775=
  • NC_000007.13:g.6026775T=
  • NR_136154.1:n.1708=
  • p.Lys541Glu
  • p.Lys541Lys
Links:
dbSNP: rs2228006
NCBI 1000 Genomes Browser:
rs2228006
Molecular consequence:
  • NM_000535.7:c.1621= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322003.2:c.1216= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322004.2:c.1216= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322005.2:c.1216= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322006.2:c.1465= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322007.1:c.1303= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322008.2:c.1303= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322009.2:c.1216= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322010.2:c.1060= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322011.2:c.688= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322012.2:c.688= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322013.2:c.1048= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322014.2:c.1621= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001322015.2:c.1312= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NR_136154.1:n.1708= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NR_136154.1:n.1708= - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000043425Biesecker Lab/Clinical Genomics Section,National Institutes of Health - ClinSeqno assertion criteria providedno known pathogenicity
(Jul 13, 2012)
germlineresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno562not providednot provided571not providedresearch

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257

Details of each submission

From Biesecker Lab/Clinical Genomics Section,National Institutes of Health - ClinSeq, SCV000043425.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided562not providednot providedresearch PubMed (1)

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See PubMed ID:22703879 for details.

Description

Converted during submission to Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineno571not provideddiscovery562not providednot providednot provided

Last Updated: Jun 14, 2021

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