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NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 17, 2018
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:
RCV000733263.4

Allele description [Variation Report for NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)]

NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)

Genes:
ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
TRIM32:tripartite motif containing 32 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q33.1
Genomic location:
Preferred name:
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)
HGVS:
  • NC_000009.12:g.116698871CT[1]
  • NG_011619.1:g.16570CT[1]
  • NG_021409.2:g.721185GA[1]
  • NM_001099679.2:c.1131_1132del
  • NM_001365068.1:c.2806+26900_2806+26901delMANE SELECT
  • NM_001365069.1:c.2794+26900_2794+26901del
  • NM_001379048.1:c.1131_1132del
  • NM_001379049.1:c.1131_1132del
  • NM_001379050.1:c.1131_1132del
  • NM_012210.4:c.1131_1132delMANE SELECT
  • NM_014010.5:c.2653+26900_2653+26901del
  • NP_001093149.1:p.Tyr378fs
  • NP_001365977.1:p.Tyr378fs
  • NP_001365978.1:p.Tyr378fs
  • NP_001365979.1:p.Tyr378fs
  • NP_036342.2:p.Tyr378Argfs
  • NP_036342.2:p.Tyr378fs
  • LRG_211t1:c.1129_1130CT[1]
  • LRG_211:g.16570CT[1]
  • LRG_211p1:p.Tyr378Argfs
  • NC_000009.11:g.119461150CT[1]
  • NM_012210.3:c.1129_1130CT[1]
  • NM_012210.3:c.1131_1132del
Protein change:
Y378fs
Links:
dbSNP: rs1564217246
NCBI 1000 Genomes Browser:
rs1564217246
Molecular consequence:
  • NM_001099679.2:c.1131_1132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379048.1:c.1131_1132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379049.1:c.1131_1132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379050.1:c.1131_1132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012210.4:c.1131_1132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001365068.1:c.2806+26900_2806+26901del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365069.1:c.2794+26900_2794+26901del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014010.5:c.2653+26900_2653+26901del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000861308Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)		Pathogenic
(May 17, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000861308.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024