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NM_016040.5(TMED5):c.180C>G (p.Ile60Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 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:
RCV004135023.1

Allele description [Variation Report for NM_016040.5(TMED5):c.180C>G (p.Ile60Met)]

NM_016040.5(TMED5):c.180C>G (p.Ile60Met)

Genes:
CCDC18:coiled-coil domain containing 18 [Gene - HGNC]
TMED5:transmembrane p24 trafficking protein 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_016040.5(TMED5):c.180C>G (p.Ile60Met)
HGVS:
  • NC_000001.11:g.93180063G>C
  • NM_001167830.2:c.180C>G
  • NM_001410825.1:c.180C>G
  • NM_016040.5:c.180C>GMANE SELECT
  • NP_001161302.1:p.Ile60Met
  • NP_001397754.1:p.Ile60Met
  • NP_057124.3:p.Ile60Met
  • NC_000001.10:g.93645620G>C
  • NM_016040.4:c.180C>G
  • NR_030761.2:n.351C>G
Protein change:
I60M
Molecular consequence:
  • NM_001167830.2:c.180C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410825.1:c.180C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016040.5:c.180C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_030761.2:n.351C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003623578Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 27, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003623578.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.180C>G (p.I60M) alteration is located in exon 1 (coding exon 1) of the TMED5 gene. This alteration results from a C to G substitution at nucleotide position 180, causing the isoleucine (I) at amino acid position 60 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024