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NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 1, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001250044.2

Allele description [Variation Report for NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)]

NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)

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.3371C>T (p.Thr1124Met)
Other names:
p.Thr1124Met
HGVS:
  • NC_000009.12:g.69252864C>T
  • NG_016342.2:g.156958C>T
  • NM_001170414.2:c.2861C>T
  • NM_001170415.1:c.3272C>T
  • NM_001170416.2:c.3464C>T
  • NM_001369870.1:c.3296C>T
  • NM_001369871.1:c.3302C>T
  • NM_001369872.1:c.3260C>T
  • NM_001369873.1:c.3047C>T
  • NM_001369874.1:c.2942C>T
  • NM_001369875.1:c.3383C>T
  • NM_004817.4:c.3371C>TMANE SELECT
  • NM_201629.3:c.2930C>T
  • NP_001163885.1:p.Thr954Met
  • NP_001163886.1:p.Thr1091Met
  • NP_001163887.1:p.Thr1155Met
  • NP_001356799.1:p.Thr1099Met
  • NP_001356800.1:p.Thr1101Met
  • NP_001356801.1:p.Thr1087Met
  • NP_001356802.1:p.Thr1016Met
  • NP_001356803.1:p.Thr981Met
  • NP_001356804.1:p.Thr1128Met
  • NP_004808.2:p.Thr1124Met
  • NP_963923.1:p.Thr977Met
  • LRG_1201t1:c.3371C>T
  • LRG_1201:g.156958C>T
  • LRG_1201p1:p.Thr1124Met
  • NC_000009.11:g.71867780C>T
  • NG_016342.1:g.136557C>T
  • NM_004817.2:c.3371C>T
  • NM_004817.3:c.3371C>T
Protein change:
T1016M
Links:
dbSNP: rs376663560
NCBI 1000 Genomes Browser:
rs376663560
Molecular consequence:
  • NM_001170414.2:c.2861C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001170415.1:c.3272C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001170416.2:c.3464C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369870.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369871.1:c.3302C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369872.1:c.3260C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369873.1:c.3047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369874.1:c.2942C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369875.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004817.4:c.3371C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201629.3:c.2930C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypercholanemia, familial 1 (FHCA1)
Identifiers:
MONDO: MONDO:0031446; MedGen: C5542604; Orphanet: 238475; OMIM: 607748
Name:
Cholestasis, progressive familial intrahepatic, 4
Identifiers:
MONDO: MONDO:0014381; MedGen: C2931067; Orphanet: 79304; OMIM: 615878

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001424179Elsea Laboratory, Baylor College of Medicine
no assertion criteria provided
Likely pathogenic
(Apr 1, 2020) 		maternalclinical testing

Help

Summary from all submissions

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

Details of each submission

From Elsea Laboratory, Baylor College of Medicine, SCV001424179.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024