U.S. flag

An official website of the United States government

NM_006070.6(TFG):c.1048G>A (p.Ala350Thr) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 8, 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:
RCV000877235.8

Allele description [Variation Report for NM_006070.6(TFG):c.1048G>A (p.Ala350Thr)]

NM_006070.6(TFG):c.1048G>A (p.Ala350Thr)

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.1048G>A (p.Ala350Thr)
Other names:
p.Ala350Thr
HGVS:
  • NC_000003.12:g.100748376G>A
  • NG_027821.2:g.44087G>A
  • NM_001007565.2:c.1048G>A
  • NM_001195478.2:c.1048G>A
  • NM_001195479.2:c.1036G>A
  • NM_006070.6:c.1048G>AMANE SELECT
  • NP_001007566.1:p.Ala350Thr
  • NP_001182407.1:p.Ala350Thr
  • NP_001182408.1:p.Ala346Thr
  • NP_006061.2:p.Ala350Thr
  • NC_000003.11:g.100467220G>A
  • NM_006070.5:c.1048G>A
Protein change:
A346T
Links:
dbSNP: rs543542721
NCBI 1000 Genomes Browser:
rs543542721
Molecular consequence:
  • NM_001007565.2:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195478.2:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195479.2:c.1036G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006070.6:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary motor and sensory neuropathy, Okinawa type (HMSNO)
Synonyms:
HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE
Identifiers:
MONDO: MONDO:0011468; MedGen: C1858338; OMIM: 604484
Name:
Hereditary spastic paraplegia 57
Synonyms:
Spastic paraplegia 57, autosomal recessive
Identifiers:
MONDO: MONDO:0014295; MedGen: C3714897; Orphanet: 431329; OMIM: 615658

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001019941Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Nov 8, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001019941.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024