U.S. flag

An official website of the United States government

NM_000535.7(PMS2):c.512del (p.Lys171fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 4, 2015
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:
RCV002338167.2

Allele description [Variation Report for NM_000535.7(PMS2):c.512del (p.Lys171fs)]

NM_000535.7(PMS2):c.512del (p.Lys171fs)

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.512del (p.Lys171fs)
HGVS:
  • NC_000007.14:g.6002479del
  • NG_008466.1:g.11629del
  • NM_000535.7:c.512delMANE SELECT
  • NM_001018040.1:c.106delA
  • NM_001322003.2:c.107del
  • NM_001322004.2:c.107del
  • NM_001322005.2:c.107del
  • NM_001322006.2:c.512del
  • NM_001322007.2:c.194del
  • NM_001322008.2:c.194del
  • NM_001322009.2:c.107del
  • NM_001322010.2:c.107del
  • NM_001322011.2:c.-373del
  • NM_001322012.2:c.-373del
  • NM_001322013.2:c.107del
  • NM_001322014.2:c.512del
  • NM_001322015.2:c.203del
  • NM_001406866.1:c.697delA
  • NM_001406868.1:c.535delA
  • NM_001406869.1:c.511delA
  • NM_001406870.1:c.511delA
  • NM_001406871.1:c.511delA
  • NM_001406872.1:c.511delA
  • NM_001406873.1:c.511delA
  • NM_001406874.1:c.511delA
  • NM_001406875.1:c.202delA
  • NM_001406876.1:c.193delA
  • NM_001406877.1:c.202delA
  • NM_001406878.1:c.202delA
  • NM_001406879.1:c.202delA
  • NM_001406880.1:c.202delA
  • NM_001406881.1:c.202delA
  • NM_001406882.1:c.202delA
  • NM_001406883.1:c.193delA
  • NM_001406884.1:c.511delA
  • NM_001406886.1:c.511delA
  • NM_001406887.1:c.106delA
  • NM_001406888.1:c.106delA
  • NM_001406889.1:c.106delA
  • NM_001406890.1:c.106delA
  • NM_001406891.1:c.106delA
  • NM_001406892.1:c.106delA
  • NM_001406893.1:c.106delA
  • NM_001406894.1:c.106delA
  • NM_001406895.1:c.106delA
  • NM_001406896.1:c.106delA
  • NM_001406897.1:c.106delA
  • NM_001406898.1:c.106delA
  • NM_001406899.1:c.106delA
  • NM_001406900.1:c.202delA
  • NM_001406901.1:c.193delA
  • NM_001406902.1:c.193delA
  • NM_001406903.1:c.193delA
  • NM_001406904.1:c.106delA
  • NM_001406905.1:c.106delA
  • NM_001406906.1:c.106delA
  • NM_001406907.1:c.106delA
  • NM_001406908.1:c.106delA
  • NM_001406909.1:c.106delA
  • NM_001406910.1:c.106delA
  • NM_001406911.1:c.106delA
  • NM_001406912.1:c.511delA
  • NP_000526.1:p.Lys171Argfs
  • NP_000526.2:p.Lys171fs
  • NP_001018050.1:p.Lys36Argfs
  • NP_001308932.1:p.Lys36fs
  • NP_001308933.1:p.Lys36fs
  • NP_001308934.1:p.Lys36fs
  • NP_001308935.1:p.Lys171fs
  • NP_001308936.1:p.Lys65fs
  • NP_001308937.1:p.Lys65fs
  • NP_001308938.1:p.Lys36fs
  • NP_001308939.1:p.Lys36fs
  • NP_001308942.1:p.Lys36fs
  • NP_001308943.1:p.Lys171fs
  • NP_001308944.1:p.Lys68fs
  • NP_001393795.1:p.Lys233Argfs
  • NP_001393797.1:p.Lys179Argfs
  • NP_001393798.1:p.Lys171Argfs
  • NP_001393799.1:p.Lys171Argfs
  • NP_001393800.1:p.Lys171Argfs
  • NP_001393801.1:p.Lys171Argfs
  • NP_001393802.1:p.Lys171Argfs
  • NP_001393803.1:p.Lys171Argfs
  • NP_001393804.1:p.Lys68Argfs
  • NP_001393805.1:p.Lys65Argfs
  • NP_001393806.1:p.Lys68Argfs
  • NP_001393807.1:p.Lys68Argfs
  • NP_001393808.1:p.Lys68Argfs
  • NP_001393809.1:p.Lys68Argfs
  • NP_001393810.1:p.Lys68Argfs
  • NP_001393811.1:p.Lys68Argfs
  • NP_001393812.1:p.Lys65Argfs
  • NP_001393813.1:p.Lys171Argfs
  • NP_001393815.1:p.Lys171Argfs
  • NP_001393816.1:p.Lys36Argfs
  • NP_001393817.1:p.Lys36Argfs
  • NP_001393818.1:p.Lys36Argfs
  • NP_001393819.1:p.Lys36Argfs
  • NP_001393820.1:p.Lys36Argfs
  • NP_001393821.1:p.Lys36Argfs
  • NP_001393822.1:p.Lys36Argfs
  • NP_001393823.1:p.Lys36Argfs
  • NP_001393824.1:p.Lys36Argfs
  • NP_001393825.1:p.Lys36Argfs
  • NP_001393826.1:p.Lys36Argfs
  • NP_001393827.1:p.Lys36Argfs
  • NP_001393828.1:p.Lys36Argfs
  • NP_001393829.1:p.Lys68Argfs
  • NP_001393830.1:p.Lys65Argfs
  • NP_001393831.1:p.Lys65Argfs
  • NP_001393832.1:p.Lys65Argfs
  • NP_001393833.1:p.Lys36Argfs
  • NP_001393834.1:p.Lys36Argfs
  • NP_001393835.1:p.Lys36Argfs
  • NP_001393836.1:p.Lys36Argfs
  • NP_001393837.1:p.Lys36Argfs
  • NP_001393838.1:p.Lys36Argfs
  • NP_001393839.1:p.Lys36Argfs
  • NP_001393840.1:p.Lys36Argfs
  • NP_001393841.1:p.Lys171Argfs
  • LRG_161t1:c.511del
  • LRG_161:g.11629del
  • LRG_161p1:p.Lys171Argfs
  • NC_000007.13:g.6042110del
  • NM_000535.5:c.511delA
  • NM_000535.5:c.512delA
  • NR_003085.2:n.593delA
  • NR_136154.1:n.599del
Protein change:
K171fs
Molecular consequence:
  • NM_001322011.2:c.-373del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322012.2:c.-373del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000535.7:c.512del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001018040.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322003.2:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322004.2:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322005.2:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322006.2:c.512del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322007.2:c.194del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322008.2:c.194del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322009.2:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322010.2:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322013.2:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322014.2:c.512del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322015.2:c.203del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406866.1:c.697delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406868.1:c.535delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406869.1:c.511delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406870.1:c.511delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406871.1:c.511delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406872.1:c.511delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406873.1:c.511delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406874.1:c.511delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406875.1:c.202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406876.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406877.1:c.202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406878.1:c.202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406879.1:c.202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406880.1:c.202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406881.1:c.202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406882.1:c.202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406883.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406884.1:c.511delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406886.1:c.511delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406887.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406888.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406889.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406890.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406891.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406892.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406893.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406894.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406895.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406896.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406897.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406898.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406899.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406900.1:c.202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406901.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406902.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406903.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406904.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406905.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406906.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406907.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406908.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406909.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406910.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406911.1:c.106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406912.1:c.511delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_136154.1:n.599del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002644717Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 4, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002644717.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.512delA pathogenic mutation, located in coding exon 5 of the PMS2 gene, results from a deletion of one nucleotide at position 512, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024