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NM_032801.5(JAM3):c.545C>T (p.Thr182Met) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2022
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:
RCV002879205.1

Allele description [Variation Report for NM_032801.5(JAM3):c.545C>T (p.Thr182Met)]

NM_032801.5(JAM3):c.545C>T (p.Thr182Met)

Gene:
JAM3:junctional adhesion molecule 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q25
Genomic location:
Preferred name:
NM_032801.5(JAM3):c.545C>T (p.Thr182Met)
HGVS:
  • NC_000011.10:g.134144927C>T
  • NG_028348.1:g.81003C>T
  • NM_001205329.2:c.392C>T
  • NM_031470.1:c.545C>T
  • NM_032801.5:c.545C>TMANE SELECT
  • NP_001192258.1:p.Thr131Met
  • NP_113658.1:p.Thr182Met
  • NP_116190.3:p.Thr182Met
  • NC_000011.9:g.134014822C>T
  • NM_032801.4:c.545C>T
Protein change:
T131M
Molecular consequence:
  • NM_001205329.2:c.392C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031470.1:c.545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032801.5:c.545C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003644309Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Aug 12, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003644309.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.545C>T (p.T182M) alteration is located in exon 5 (coding exon 5) of the JAM3 gene. This alteration results from a C to T substitution at nucleotide position 545, causing the threonine (T) at amino acid position 182 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 13, 2023