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NM_003274.5(TRAPPC10):c.1160G>A (p.Gly387Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 5, 2023
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:
RCV004297009.1

Allele description [Variation Report for NM_003274.5(TRAPPC10):c.1160G>A (p.Gly387Glu)]

NM_003274.5(TRAPPC10):c.1160G>A (p.Gly387Glu)

Gene:
TRAPPC10:trafficking protein particle complex subunit 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_003274.5(TRAPPC10):c.1160G>A (p.Gly387Glu)
HGVS:
  • NC_000021.9:g.44074445G>A
  • NG_008658.1:g.67121G>A
  • NG_008658.2:g.67138G>A
  • NM_001351709.1:c.-345G>A
  • NM_003274.5:c.1160G>AMANE SELECT
  • NP_003265.3:p.Gly387Glu
  • NC_000021.8:g.45494326G>A
  • NM_003274.4:c.1160G>A
Protein change:
G387E
Molecular consequence:
  • NM_001351709.1:c.-345G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_003274.5:c.1160G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003948793Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 5, 2023) 		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, SCV003948793.2

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

Description

The c.1160G>A (p.G387E) alteration is located in exon 8 (coding exon 8) of the TRAPPC10 gene. This alteration results from a G to A substitution at nucleotide position 1160, causing the glycine (G) at amino acid position 387 to be replaced by a glutamic acid (E). 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 10, 2024