NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000485817.3

Allele description [Variation Report for NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)]

NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)

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.1399G>A (p.Val467Ile)
HGVS:
  • NC_000007.14:g.5987366C>T
  • NG_008466.1:g.26741G>A
  • NM_000535.7:c.1399G>AMANE SELECT
  • NM_001322003.2:c.994G>A
  • NM_001322004.2:c.994G>A
  • NM_001322005.2:c.994G>A
  • NM_001322006.2:c.1243G>A
  • NM_001322007.2:c.1081G>A
  • NM_001322008.2:c.1081G>A
  • NM_001322009.2:c.994G>A
  • NM_001322010.2:c.838G>A
  • NM_001322011.2:c.466G>A
  • NM_001322012.2:c.466G>A
  • NM_001322013.2:c.826G>A
  • NM_001322014.2:c.1399G>A
  • NM_001322015.2:c.1090G>A
  • NP_000526.2:p.Val467Ile
  • NP_001308932.1:p.Val332Ile
  • NP_001308933.1:p.Val332Ile
  • NP_001308934.1:p.Val332Ile
  • NP_001308935.1:p.Val415Ile
  • NP_001308936.1:p.Val361Ile
  • NP_001308937.1:p.Val361Ile
  • NP_001308938.1:p.Val332Ile
  • NP_001308939.1:p.Val280Ile
  • NP_001308940.1:p.Val156Ile
  • NP_001308941.1:p.Val156Ile
  • NP_001308942.1:p.Val276Ile
  • NP_001308943.1:p.Val467Ile
  • NP_001308944.1:p.Val364Ile
  • LRG_161t1:c.1399G>A
  • LRG_161:g.26741G>A
  • NC_000007.13:g.6026997C>T
  • NM_000535.5:c.1399G>A
  • NM_000535.6:c.1399G>A
  • NR_136154.1:n.1486G>A
  • p.V467I
Protein change:
V156I
Links:
dbSNP: rs373611083
NCBI 1000 Genomes Browser:
rs373611083
Molecular consequence:
  • NM_000535.7:c.1399G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322003.2:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322004.2:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322005.2:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322006.2:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322007.2:c.1081G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322008.2:c.1081G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322009.2:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322010.2:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322011.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322012.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322013.2:c.826G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322014.2:c.1399G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322015.2:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.1486G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000601817Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Mar 24, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601817.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center