U.S. flag

An official website of the United States government

NM_033409.4(SLC52A3):c.1073+10C>T AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 1, 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:
RCV003433160.10

Allele description [Variation Report for NM_033409.4(SLC52A3):c.1073+10C>T]

NM_033409.4(SLC52A3):c.1073+10C>T

Gene:
SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_033409.4(SLC52A3):c.1073+10C>T
HGVS:
  • NC_000020.11:g.763488G>A
  • NG_027687.2:g.17498C>T
  • NM_001370085.1:c.1073+10C>T
  • NM_001370086.1:c.1073+10C>T
  • NM_033409.4:c.1073+10C>TMANE SELECT
  • LRG_1394t1:c.1073+10C>T
  • LRG_1394:g.17498C>T
  • NC_000020.10:g.744132G>A
Links:
dbSNP: rs767166849
NCBI 1000 Genomes Browser:
rs767166849
Molecular consequence:
  • NM_001370085.1:c.1073+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370086.1:c.1073+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033409.4:c.1073+10C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004149746CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Aug 1, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004149746.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

SLC52A3: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024