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NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln) AND multiple conditions

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 14, 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:
RCV001535518.3

Allele description [Variation Report for NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln)]

NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln)

Genes:
ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
TRIM32:tripartite motif containing 32 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.1
Genomic location:
Preferred name:
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln)
HGVS:
  • NC_000009.12:g.116698182G>A
  • NG_011619.1:g.15881G>A
  • NG_021409.2:g.721876C>T
  • NM_001099679.2:c.440G>A
  • NM_001365068.1:c.2806+27589C>TMANE SELECT
  • NM_001365069.1:c.2794+27589C>T
  • NM_001379048.1:c.440G>A
  • NM_001379049.1:c.440G>A
  • NM_001379050.1:c.440G>A
  • NM_012210.4:c.440G>AMANE SELECT
  • NM_014010.5:c.2653+27589C>T
  • NP_001093149.1:p.Arg147Gln
  • NP_001365977.1:p.Arg147Gln
  • NP_001365978.1:p.Arg147Gln
  • NP_001365979.1:p.Arg147Gln
  • NP_036342.2:p.Arg147Gln
  • NP_036342.2:p.Arg147Gln
  • LRG_211t1:c.440G>A
  • LRG_211:g.15881G>A
  • LRG_211p1:p.Arg147Gln
  • NC_000009.11:g.119460461G>A
  • NM_012210.3:c.440G>A
Protein change:
R147Q
Links:
dbSNP: rs552938001
NCBI 1000 Genomes Browser:
rs552938001
Molecular consequence:
  • NM_001365068.1:c.2806+27589C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365069.1:c.2794+27589C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014010.5:c.2653+27589C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099679.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379048.1:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379049.1:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379050.1:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012210.4:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sarcotubular myopathy (LGMDR8)
Synonyms:
Muscular dystrophy Hutterite type; Hutterite type of muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009683; MedGen: C0270968; Orphanet: 1878; OMIM: 254110
Name:
Bardet-Biedl syndrome 11 (BBS11)
Identifiers:
MONDO: MONDO:0014439; MedGen: C1859569; Orphanet: 110; OMIM: 615988

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749478GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

SCV002782051Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 14, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing, phenotyping only

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749478.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 06-04-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

From Fulgent Genetics, Fulgent Genetics, SCV002782051.1

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

Last Updated: Sep 29, 2024