NM_000535.7(PMS2):c.1896dup (p.His633fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 23, 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:: RCV002408111.2

Allele description [Variation Report for NM_000535.7(PMS2):c.1896dup (p.His633fs)]

NM_000535.7(PMS2):c.1896dup (p.His633fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_000535.7(PMS2):c.1896dup (p.His633fs)

HGVS:

NC_000007.14:g.5986869dup
NG_008466.1:g.27238dup
NM_000535.7:c.1896dupMANE SELECT
NM_001018040.1:c.1491dup
NM_001322003.2:c.1491dup
NM_001322004.2:c.1491dup
NM_001322005.2:c.1491dup
NM_001322006.2:c.1740dup
NM_001322007.2:c.1578dup
NM_001322008.2:c.1578dup
NM_001322009.2:c.1491dup
NM_001322010.2:c.1335dup
NM_001322011.2:c.963dup
NM_001322012.2:c.963dup
NM_001322013.2:c.1323dup
NM_001322014.2:c.1896dup
NM_001322015.2:c.1587dup
NM_001406866.1:c.2082dup
NM_001406868.1:c.1920dup
NM_001406869.1:c.1788dup
NM_001406870.1:c.1740dup
NM_001406871.1:c.1896dup
NM_001406872.1:c.1896dup
NM_001406873.1:c.1698dup
NM_001406874.1:c.1728dup
NM_001406875.1:c.1587dup
NM_001406876.1:c.1578dup
NM_001406877.1:c.1587dup
NM_001406878.1:c.1587dup
NM_001406879.1:c.1587dup
NM_001406880.1:c.1587dup
NM_001406881.1:c.1587dup
NM_001406882.1:c.1587dup
NM_001406883.1:c.1578dup
NM_001406884.1:c.1572dup
NM_001406885.1:c.1560dup
NM_001406886.1:c.1530dup
NM_001406887.1:c.1491dup
NM_001406888.1:c.1491dup
NM_001406889.1:c.1491dup
NM_001406890.1:c.1491dup
NM_001406891.1:c.1491dup
NM_001406892.1:c.1491dup
NM_001406893.1:c.1491dup
NM_001406894.1:c.1491dup
NM_001406895.1:c.1491dup
NM_001406896.1:c.1491dup
NM_001406897.1:c.1491dup
NM_001406898.1:c.1491dup
NM_001406899.1:c.1491dup
NM_001406900.1:c.1431dup
NM_001406901.1:c.1422dup
NM_001406902.1:c.1422dup
NM_001406903.1:c.1578dup
NM_001406904.1:c.1383dup
NM_001406905.1:c.1383dup
NM_001406906.1:c.1335dup
NM_001406907.1:c.1335dup
NM_001406908.1:c.1491dup
NM_001406909.1:c.1323dup
NM_001406910.1:c.1491dup
NM_001406911.1:c.1125dup
NP_000526.1:p.His633Thrfs
NP_000526.2:p.His633fs
NP_001018050.1:p.His498Thrfs
NP_001308932.1:p.His498fs
NP_001308933.1:p.His498fs
NP_001308934.1:p.His498fs
NP_001308935.1:p.His581fs
NP_001308936.1:p.His527fs
NP_001308937.1:p.His527fs
NP_001308938.1:p.His498fs
NP_001308939.1:p.His446fs
NP_001308940.1:p.His322fs
NP_001308941.1:p.His322fs
NP_001308942.1:p.His442fs
NP_001308943.1:p.His633fs
NP_001308944.1:p.His530fs
NP_001393795.1:p.His695Thrfs
NP_001393797.1:p.His641Thrfs
NP_001393798.1:p.His597Thrfs
NP_001393799.1:p.His581Thrfs
NP_001393800.1:p.His633Thrfs
NP_001393801.1:p.His633Thrfs
NP_001393802.1:p.His567Thrfs
NP_001393803.1:p.His577Thrfs
NP_001393804.1:p.His530Thrfs
NP_001393805.1:p.His527Thrfs
NP_001393806.1:p.His530Thrfs
NP_001393807.1:p.His530Thrfs
NP_001393808.1:p.His530Thrfs
NP_001393809.1:p.His530Thrfs
NP_001393810.1:p.His530Thrfs
NP_001393811.1:p.His530Thrfs
NP_001393812.1:p.His527Thrfs
NP_001393813.1:p.His525Thrfs
NP_001393814.1:p.His521Thrfs
NP_001393815.1:p.His511Thrfs
NP_001393816.1:p.His498Thrfs
NP_001393817.1:p.His498Thrfs
NP_001393818.1:p.His498Thrfs
NP_001393819.1:p.His498Thrfs
NP_001393820.1:p.His498Thrfs
NP_001393821.1:p.His498Thrfs
NP_001393822.1:p.His498Thrfs
NP_001393823.1:p.His498Thrfs
NP_001393824.1:p.His498Thrfs
NP_001393825.1:p.His498Thrfs
NP_001393826.1:p.His498Thrfs
NP_001393827.1:p.His498Thrfs
NP_001393828.1:p.His498Thrfs
NP_001393829.1:p.His478Thrfs
NP_001393830.1:p.His475Thrfs
NP_001393831.1:p.His475Thrfs
NP_001393832.1:p.His527Thrfs
NP_001393833.1:p.His462Thrfs
NP_001393834.1:p.His462Thrfs
NP_001393835.1:p.His446Thrfs
NP_001393836.1:p.His446Thrfs
NP_001393837.1:p.His498Thrfs
NP_001393838.1:p.His442Thrfs
NP_001393839.1:p.His498Thrfs
NP_001393840.1:p.His376Thrfs
LRG_161t1:c.1896dup
LRG_161:g.27238dup
LRG_161p1:p.His633Thrfs
NC_000007.13:g.6026500dup
NM_000535.5:c.1896dup
NM_000535.5:c.1896dupA
NR_003085.2:n.1978dup
NR_136154.1:n.1983dup

Protein change:

H322fs

Molecular consequence:

NM_000535.7:c.1896dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001018040.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322003.2:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322004.2:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322005.2:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322006.2:c.1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322007.2:c.1578dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322008.2:c.1578dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322009.2:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322010.2:c.1335dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322011.2:c.963dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322012.2:c.963dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322013.2:c.1323dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322014.2:c.1896dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322015.2:c.1587dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406866.1:c.2082dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406868.1:c.1920dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406869.1:c.1788dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406870.1:c.1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406871.1:c.1896dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406872.1:c.1896dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406873.1:c.1698dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406874.1:c.1728dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406875.1:c.1587dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406876.1:c.1578dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406877.1:c.1587dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406878.1:c.1587dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406879.1:c.1587dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406880.1:c.1587dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406881.1:c.1587dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406882.1:c.1587dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406883.1:c.1578dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406884.1:c.1572dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406885.1:c.1560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406886.1:c.1530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406887.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406888.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406889.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406890.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406891.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406892.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406893.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406894.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406895.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406896.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406897.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406898.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406899.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406900.1:c.1431dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406901.1:c.1422dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406902.1:c.1422dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406903.1:c.1578dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406904.1:c.1383dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406905.1:c.1383dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406906.1:c.1335dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406907.1:c.1335dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406908.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406909.1:c.1323dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406910.1:c.1491dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406911.1:c.1125dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_136154.1:n.1983dup - 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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PREDICTED: aspartyl/asparaginyl beta-hydroxylase, partial [Tauraco erythrolophus...
PREDICTED: aspartyl/asparaginyl beta-hydroxylase, partial [Tauraco erythrolophus]
gi|701325507|ref|XP_009991328.1|

Protein
LOC110799648 [Spinacia oleracea]
LOC110799648 [Spinacia oleracea]
Gene ID:110799648

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002722547	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Apr 23, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002722547

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Apr 23, 2021)

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 Ambry Genetics, SCV002722547.2

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

Description

The c.1896dupA pathogenic mutation, located in coding exon 11 of the PMS2 gene, results from a duplication of A at nucleotide position 1896, causing a translational frameshift with a predicted alternate stop codon (p.H633Tfs*3). 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.

#	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: May 1, 2024

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