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NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 11, 2016
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:
RCV002312524.9

Allele description [Variation Report for NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)]

NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)

Gene:
TRAPPC9:trafficking protein particle complex subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)
HGVS:
  • NC_000008.11:g.140451167A>G
  • NG_016478.3:g.12413T>C
  • NM_001160372.4:c.207T>CMANE SELECT
  • NM_001321646.2:c.207T>C
  • NM_001374682.1:c.207T>C
  • NM_001374683.1:c.207T>C
  • NM_001374684.1:c.207T>C
  • NM_031466.8:c.207T>C
  • NM_031466.8:c.207T>C
  • NP_001153844.1:p.Gly69=
  • NP_001308575.1:p.Gly69=
  • NP_001361611.1:p.Gly69=
  • NP_001361612.1:p.Gly69=
  • NP_001361613.1:p.Gly69=
  • NP_113654.5:p.Gly69=
  • LRG_1041t1:c.207T>C
  • LRG_1041t2:c.207T>C
  • LRG_1041:g.12413T>C
  • LRG_1041p1:p.Gly69=
  • LRG_1041p2:p.Gly69=
  • NC_000008.10:g.141461266A>G
  • NG_016478.2:g.12413T>C
  • NM_031466.5:c.501T>C
  • NR_164662.1:n.323T>C
Links:
dbSNP: rs3735801
NCBI 1000 Genomes Browser:
rs3735801
Molecular consequence:
  • NR_164662.1:n.323T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001160372.4:c.207T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001321646.2:c.207T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374682.1:c.207T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374683.1:c.207T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374684.1:c.207T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_031466.8:c.207T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000846127Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Mar 11, 2016) 		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, SCV000846127.6

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024