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NM_006070.6(TFG):c.988A>G (p.Thr330Ala) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 3, 2019
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:
RCV002384150.2

Allele description [Variation Report for NM_006070.6(TFG):c.988A>G (p.Thr330Ala)]

NM_006070.6(TFG):c.988A>G (p.Thr330Ala)

Gene:
TFG:trafficking from ER to golgi regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q12.2
Genomic location:
Preferred name:
NM_006070.6(TFG):c.988A>G (p.Thr330Ala)
HGVS:
  • NC_000003.12:g.100748316A>G
  • NG_027821.2:g.44027A>G
  • NM_001007565.2:c.988A>G
  • NM_001195478.2:c.988A>G
  • NM_001195479.2:c.976A>G
  • NM_006070.6:c.988A>GMANE SELECT
  • NP_001007566.1:p.Thr330Ala
  • NP_001182407.1:p.Thr330Ala
  • NP_001182408.1:p.Thr326Ala
  • NP_006061.2:p.Thr330Ala
  • NC_000003.11:g.100467160A>G
  • NM_006070.5:c.988A>G
Protein change:
T326A
Links:
dbSNP: rs145835282
NCBI 1000 Genomes Browser:
rs145835282
Molecular consequence:
  • NM_001007565.2:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195478.2:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195479.2:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006070.6:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002691265Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 3, 2019) 		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, SCV002691265.2

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

Description

This alteration is classified as likely 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: Sep 29, 2024