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NM_012210.4(TRIM32):c.366C>G (p.Pro122=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 9, 2017
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:
RCV000602609.1

Allele description [Variation Report for NM_012210.4(TRIM32):c.366C>G (p.Pro122=)]

NM_012210.4(TRIM32):c.366C>G (p.Pro122=)

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.366C>G (p.Pro122=)
HGVS:
  • NC_000009.12:g.116698108C>G
  • NG_011619.1:g.15807C>G
  • NG_021409.2:g.721950G>C
  • NM_001099679.2:c.366C>G
  • NM_001365068.1:c.2806+27663G>CMANE SELECT
  • NM_001365069.1:c.2794+27663G>C
  • NM_001379048.1:c.366C>G
  • NM_001379049.1:c.366C>G
  • NM_001379050.1:c.366C>G
  • NM_012210.4:c.366C>GMANE SELECT
  • NM_014010.5:c.2653+27663G>C
  • NP_001093149.1:p.Pro122=
  • NP_001365977.1:p.Pro122=
  • NP_001365978.1:p.Pro122=
  • NP_001365979.1:p.Pro122=
  • NP_036342.2:p.Pro122=
  • NP_036342.2:p.Pro122=
  • LRG_211t1:c.366C>G
  • LRG_211:g.15807C>G
  • LRG_211p1:p.Pro122=
  • NC_000009.11:g.119460387C>G
  • NM_012210.3:c.366C>G
Links:
dbSNP: rs137947083
NCBI 1000 Genomes Browser:
rs137947083
Molecular consequence:
  • NM_001365068.1:c.2806+27663G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365069.1:c.2794+27663G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014010.5:c.2653+27663G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099679.2:c.366C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001379048.1:c.366C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001379049.1:c.366C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001379050.1:c.366C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012210.4:c.366C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000715682GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Feb 9, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000715682.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Oct 13, 2024