NM_004817.4(TJP2):c.1091C>T (p.Thr364Met) AND not specified

Clinical significance:Benign (Last evaluated: Jul 10, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000155394.5

Allele description [Variation Report for NM_004817.4(TJP2):c.1091C>T (p.Thr364Met)]

NM_004817.4(TJP2):c.1091C>T (p.Thr364Met)

Gene:
TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.11
Genomic location:
Preferred name:
NM_004817.4(TJP2):c.1091C>T (p.Thr364Met)
HGVS:
  • NC_000009.12:g.69226056C>T
  • NG_016342.1:g.109749C>T
  • NG_016342.2:g.130150C>T
  • NM_001170414.2:c.1022C>T
  • NM_001170415.1:c.1103C>T
  • NM_001170416.2:c.1184C>T
  • NM_001369870.1:c.1022C>T
  • NM_001369871.1:c.1022C>T
  • NM_001369872.1:c.1091C>T
  • NM_001369873.1:c.1091C>T
  • NM_001369874.1:c.1103C>T
  • NM_001369875.1:c.1103C>T
  • NM_004817.4:c.1091C>TMANE SELECT
  • NM_201629.3:c.1091C>T
  • NP_001163885.1:p.Thr341Met
  • NP_001163886.1:p.Thr368Met
  • NP_001163887.1:p.Thr395Met
  • NP_001356799.1:p.Thr341Met
  • NP_001356800.1:p.Thr341Met
  • NP_001356801.1:p.Thr364Met
  • NP_001356802.1:p.Thr364Met
  • NP_001356803.1:p.Thr368Met
  • NP_001356804.1:p.Thr368Met
  • NP_004808.2:p.Thr364Met
  • NP_963923.1:p.Thr364Met
  • LRG_1201t1:c.1091C>T
  • LRG_1201:g.130150C>T
  • LRG_1201p1:p.Thr364Met
  • NC_000009.11:g.71840972C>T
  • NM_001170414.1:c.1022C>T
  • NM_004817.3:c.1091C>T
Protein change:
T341M
Links:
dbSNP: rs77321498
NCBI 1000 Genomes Browser:
rs77321498
Molecular consequence:
  • NM_001170414.2:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001170415.1:c.1103C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001170416.2:c.1184C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369870.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369871.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369872.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369873.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369874.1:c.1103C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369875.1:c.1103C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004817.4:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201629.3:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000205081Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(May 7, 2012)
germlineclinical testing

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

SCV001474917Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jul 10, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

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 Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000205081.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Thr341Met in Exon 08 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 1.8% (66/3736) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs77321498).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

From Athena Diagnostics Inc, SCV001474917.1

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

Last Updated: Nov 27, 2021

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