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NM_033409.4(SLC52A3):c.321C>T (p.Ala107=) AND Progressive bulbar palsy of childhood

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV001544410.2

Allele description [Variation Report for NM_033409.4(SLC52A3):c.321C>T (p.Ala107=)]

NM_033409.4(SLC52A3):c.321C>T (p.Ala107=)

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.321C>T (p.Ala107=)
HGVS:
  • NC_000020.11:g.765454G>A
  • NG_027687.2:g.15532C>T
  • NM_001370085.1:c.321C>T
  • NM_001370086.1:c.321C>T
  • NM_033409.4:c.321C>TMANE SELECT
  • NP_001357014.1:p.Ala107=
  • NP_001357015.1:p.Ala107=
  • NP_212134.3:p.Ala107=
  • LRG_1394t1:c.321C>T
  • LRG_1394:g.15532C>T
  • LRG_1394p1:p.Ala107=
  • NC_000020.10:g.746098G>A
  • NG_027687.1:g.8131C>T
  • NM_033409.3:c.321C>T
  • p.Ala107Ala
Links:
dbSNP: rs3746808
NCBI 1000 Genomes Browser:
rs3746808
Molecular consequence:
  • NM_001370085.1:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370086.1:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033409.4:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Progressive bulbar palsy of childhood
Synonyms:
Fazio Londe syndrome; Progressive bulbar paralysis of childhood; Bulbar hereditary motor neuronopathy (HMN) type II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100428; MedGen: C0015708; OMIM: 211500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001763446Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 14, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

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 Genome-Nilou Lab, SCV001763446.1

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

Last Updated: Sep 29, 2024