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NM_000535.7(PMS2):c.2026_2027del (p.Met676fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 3, 2021
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:
RCV002419677.2

Allele description [Variation Report for NM_000535.7(PMS2):c.2026_2027del (p.Met676fs)]

NM_000535.7(PMS2):c.2026_2027del (p.Met676fs)

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.2026_2027del (p.Met676fs)
HGVS:
  • NC_000007.14:g.5982971_5982972del
  • NG_008466.1:g.31135_31136del
  • NM_000535.7:c.2026_2027delMANE SELECT
  • NM_001018040.1:c.1621_1622delAT
  • NM_001322003.2:c.1621_1622del
  • NM_001322004.2:c.1621_1622del
  • NM_001322005.2:c.1621_1622del
  • NM_001322006.2:c.1870_1871del
  • NM_001322007.2:c.1708_1709del
  • NM_001322008.2:c.1708_1709del
  • NM_001322009.2:c.1621_1622del
  • NM_001322010.2:c.1465_1466del
  • NM_001322011.2:c.1093_1094del
  • NM_001322012.2:c.1093_1094del
  • NM_001322013.2:c.1453_1454del
  • NM_001322014.2:c.2026_2027del
  • NM_001322015.2:c.1717_1718del
  • NM_001406866.1:c.2212_2213delAT
  • NM_001406868.1:c.2050_2051delAT
  • NM_001406869.1:c.1918_1919delAT
  • NM_001406870.1:c.1870_1871delAT
  • NM_001406871.1:c.2026_2027delAT
  • NM_001406873.1:c.1828_1829delAT
  • NM_001406874.1:c.1858_1859delAT
  • NM_001406875.1:c.1717_1718delAT
  • NM_001406876.1:c.1708_1709delAT
  • NM_001406877.1:c.1717_1718delAT
  • NM_001406878.1:c.1717_1718delAT
  • NM_001406879.1:c.1717_1718delAT
  • NM_001406880.1:c.1717_1718delAT
  • NM_001406881.1:c.1717_1718delAT
  • NM_001406882.1:c.1717_1718delAT
  • NM_001406883.1:c.1708_1709delAT
  • NM_001406884.1:c.1702_1703delAT
  • NM_001406885.1:c.1690_1691delAT
  • NM_001406886.1:c.1660_1661delAT
  • NM_001406887.1:c.1621_1622delAT
  • NM_001406888.1:c.1621_1622delAT
  • NM_001406889.1:c.1621_1622delAT
  • NM_001406890.1:c.1621_1622delAT
  • NM_001406891.1:c.1621_1622delAT
  • NM_001406892.1:c.1621_1622delAT
  • NM_001406893.1:c.1621_1622delAT
  • NM_001406894.1:c.1621_1622delAT
  • NM_001406895.1:c.1621_1622delAT
  • NM_001406896.1:c.1621_1622delAT
  • NM_001406897.1:c.1621_1622delAT
  • NM_001406898.1:c.1621_1622delAT
  • NM_001406899.1:c.1621_1622delAT
  • NM_001406900.1:c.1561_1562delAT
  • NM_001406901.1:c.1552_1553delAT
  • NM_001406902.1:c.1552_1553delAT
  • NM_001406904.1:c.1513_1514delAT
  • NM_001406905.1:c.1513_1514delAT
  • NM_001406906.1:c.1465_1466delAT
  • NM_001406907.1:c.1465_1466delAT
  • NM_001406909.1:c.1453_1454delAT
  • NM_001406911.1:c.1255_1256delAT
  • NM_001406912.1:c.823_824delAT
  • NP_000526.1:p.Met676Glyfs
  • NP_000526.2:p.Met676fs
  • NP_001018050.1:p.Met541Glyfs
  • NP_001308932.1:p.Met541fs
  • NP_001308933.1:p.Met541fs
  • NP_001308934.1:p.Met541fs
  • NP_001308935.1:p.Met624fs
  • NP_001308936.1:p.Met570fs
  • NP_001308937.1:p.Met570fs
  • NP_001308938.1:p.Met541fs
  • NP_001308939.1:p.Met489fs
  • NP_001308940.1:p.Met365fs
  • NP_001308941.1:p.Met365fs
  • NP_001308942.1:p.Met485fs
  • NP_001308943.1:p.Met676fs
  • NP_001308944.1:p.Met573fs
  • NP_001393795.1:p.Met738Glyfs
  • NP_001393797.1:p.Met684Glyfs
  • NP_001393798.1:p.Met640Glyfs
  • NP_001393799.1:p.Met624Glyfs
  • NP_001393800.1:p.Met676Glyfs
  • NP_001393802.1:p.Met610Glyfs
  • NP_001393803.1:p.Met620Glyfs
  • NP_001393804.1:p.Met573Glyfs
  • NP_001393805.1:p.Met570Glyfs
  • NP_001393806.1:p.Met573Glyfs
  • NP_001393807.1:p.Met573Glyfs
  • NP_001393808.1:p.Met573Glyfs
  • NP_001393809.1:p.Met573Glyfs
  • NP_001393810.1:p.Met573Glyfs
  • NP_001393811.1:p.Met573Glyfs
  • NP_001393812.1:p.Met570Glyfs
  • NP_001393813.1:p.Met568Glyfs
  • NP_001393814.1:p.Met564Glyfs
  • NP_001393815.1:p.Met554Glyfs
  • NP_001393816.1:p.Met541Glyfs
  • NP_001393817.1:p.Met541Glyfs
  • NP_001393818.1:p.Met541Glyfs
  • NP_001393819.1:p.Met541Glyfs
  • NP_001393820.1:p.Met541Glyfs
  • NP_001393821.1:p.Met541Glyfs
  • NP_001393822.1:p.Met541Glyfs
  • NP_001393823.1:p.Met541Glyfs
  • NP_001393824.1:p.Met541Glyfs
  • NP_001393825.1:p.Met541Glyfs
  • NP_001393826.1:p.Met541Glyfs
  • NP_001393827.1:p.Met541Glyfs
  • NP_001393828.1:p.Met541Glyfs
  • NP_001393829.1:p.Met521Glyfs
  • NP_001393830.1:p.Met518Glyfs
  • NP_001393831.1:p.Met518Glyfs
  • NP_001393833.1:p.Met505Glyfs
  • NP_001393834.1:p.Met505Glyfs
  • NP_001393835.1:p.Met489Glyfs
  • NP_001393836.1:p.Met489Glyfs
  • NP_001393838.1:p.Met485Glyfs
  • NP_001393840.1:p.Met419Glyfs
  • NP_001393841.1:p.Met275Glyfs
  • LRG_161t1:c.2026_2027del
  • LRG_161:g.31135_31136del
  • LRG_161p1:p.Met676Glyfs
  • NC_000007.13:g.6022602_6022603del
  • NM_000535.5:c.2026_2027delAT
  • NR_003085.2:n.2108_2109delAT
  • NR_136154.1:n.2113_2114del
Protein change:
M365fs
Molecular consequence:
  • NM_000535.7:c.2026_2027del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001018040.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322003.2:c.1621_1622del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322004.2:c.1621_1622del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322005.2:c.1621_1622del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322006.2:c.1870_1871del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322007.2:c.1708_1709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322008.2:c.1708_1709del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322009.2:c.1621_1622del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322010.2:c.1465_1466del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322011.2:c.1093_1094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322012.2:c.1093_1094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322013.2:c.1453_1454del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322014.2:c.2026_2027del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322015.2:c.1717_1718del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406866.1:c.2212_2213delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406868.1:c.2050_2051delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406869.1:c.1918_1919delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406870.1:c.1870_1871delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406871.1:c.2026_2027delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406873.1:c.1828_1829delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406874.1:c.1858_1859delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406875.1:c.1717_1718delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406876.1:c.1708_1709delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406877.1:c.1717_1718delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406878.1:c.1717_1718delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406879.1:c.1717_1718delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406880.1:c.1717_1718delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406881.1:c.1717_1718delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406882.1:c.1717_1718delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406883.1:c.1708_1709delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406884.1:c.1702_1703delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406885.1:c.1690_1691delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406886.1:c.1660_1661delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406887.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406888.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406889.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406890.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406891.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406892.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406893.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406894.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406895.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406896.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406897.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406898.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406899.1:c.1621_1622delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406900.1:c.1561_1562delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406901.1:c.1552_1553delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406902.1:c.1552_1553delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406904.1:c.1513_1514delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406905.1:c.1513_1514delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406906.1:c.1465_1466delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406907.1:c.1465_1466delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406909.1:c.1453_1454delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406911.1:c.1255_1256delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406912.1:c.823_824delAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_136154.1:n.2113_2114del - 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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002718635Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 3, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002718635.2

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

Description

The c.2026_2027delAT pathogenic mutation, located in coding exon 12 of the PMS2 gene, results from a deletion of two nucleotides at nucleotide positions 2026 to 2027, causing a translational frameshift with a predicted alternate stop codon (p.M676Gfs*7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024