NM_000535.7(PMS2):c.301G>A (p.Val101Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 3, 2019
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:: RCV002435870.2

Allele description [Variation Report for NM_000535.7(PMS2):c.301G>A (p.Val101Ile)]

NM_000535.7(PMS2):c.301G>A (p.Val101Ile)

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.301G>A (p.Val101Ile)

HGVS:

NC_000007.14:g.6003742C>T
NG_008466.1:g.10365G>A
NM_000535.7:c.301G>AMANE SELECT
NM_001018040.1:c.-105G>A
NM_001322003.2:c.-105G>A
NM_001322004.2:c.-105G>A
NM_001322005.2:c.-105G>A
NM_001322006.2:c.301G>A
NM_001322007.2:c.35+230G>A
NM_001322008.2:c.35+230G>A
NM_001322009.2:c.-105G>A
NM_001322010.2:c.-105G>A
NM_001322011.2:c.-584G>A
NM_001322012.2:c.-584G>A
NM_001322013.2:c.-105G>A
NM_001322014.2:c.301G>A
NM_001322015.2:c.-184G>A
NM_001406866.1:c.487G>A
NM_001406868.1:c.325G>A
NM_001406869.1:c.301G>A
NM_001406870.1:c.301G>A
NM_001406871.1:c.301G>A
NM_001406872.1:c.301G>A
NM_001406873.1:c.301G>A
NM_001406874.1:c.301G>A
NM_001406875.1:c.-184G>A
NM_001406877.1:c.-184G>A
NM_001406878.1:c.-184G>A
NM_001406879.1:c.-184G>A
NM_001406882.1:c.-184G>A
NM_001406884.1:c.301G>A
NM_001406886.1:c.301G>A
NM_001406887.1:c.-105G>A
NM_001406890.1:c.-95G>A
NM_001406891.1:c.-105G>A
NM_001406893.1:c.-105G>A
NM_001406897.1:c.-105G>A
NM_001406898.1:c.-105G>A
NM_001406905.1:c.-105G>A
NM_001406906.1:c.-105G>A
NM_001406908.1:c.-105G>A
NM_001406910.1:c.-105G>A
NM_001406911.1:c.-105G>A
NM_001406912.1:c.301G>A
NP_000526.1:p.Val101Ile
NP_000526.2:p.Val101Ile
NP_001308935.1:p.Val101Ile
NP_001308943.1:p.Val101Ile
NP_001393795.1:p.Val163Ile
NP_001393797.1:p.Val109Ile
NP_001393798.1:p.Val101Ile
NP_001393799.1:p.Val101Ile
NP_001393800.1:p.Val101Ile
NP_001393801.1:p.Val101Ile
NP_001393802.1:p.Val101Ile
NP_001393803.1:p.Val101Ile
NP_001393813.1:p.Val101Ile
NP_001393815.1:p.Val101Ile
NP_001393841.1:p.Val101Ile
LRG_161t1:c.301G>A
LRG_161:g.10365G>A
LRG_161p1:p.Val101Ile
NC_000007.13:g.6043373C>T
NM_000535.5:c.301G>A
NR_003085.2:n.383G>A
NR_136154.1:n.388G>A

Protein change:

V101I

Molecular consequence:

NM_001322003.2:c.-105G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322004.2:c.-105G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322005.2:c.-105G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322009.2:c.-105G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322010.2:c.-105G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322011.2:c.-584G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322012.2:c.-584G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322013.2:c.-105G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322015.2:c.-184G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322007.2:c.35+230G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001322008.2:c.35+230G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000535.7:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322006.2:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322014.2:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406866.1:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406868.1:c.325G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406869.1:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406870.1:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406871.1:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406872.1:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406873.1:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406874.1:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406884.1:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406886.1:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406912.1:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_136154.1:n.388G>A - 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

Mus musculus strain C57BL/6J chromosome 9, GRCm39
Mus musculus strain C57BL/6J chromosome 9, GRCm39
gi|1877089960|gnl|ASM:GCF_000000055 f|NC_000075.7||gpp|GPC_000007821.1||gnl|NCBI_GENOMES|77

Nucleotide
probable 2-oxoglutarate-dependent dioxygenase At5g05600 [Cucurbita moschata]
probable 2-oxoglutarate-dependent dioxygenase At5g05600 [Cucurbita moschata]
gi|1279799674|ref|XP_022953056.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002753385	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 3, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002753385

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 3, 2019)

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, SCV002753385.2

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

Description

The p.V101I variant (also known as c.301G>A), located in coding exon 4 of the PMS2 gene, results from a G to A substitution at nucleotide position 301. The valine at codon 101 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

ClinVar

Relating variation to medicine