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NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg) AND Charcot-Marie-Tooth disease type 4B2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 2020
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:
RCV001331426.3

Allele description [Variation Report for NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)]

NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)

Genes:
SBF2-AS1:SBF2 antisense RNA 1 [Gene - HGNC]
SBF2:SET binding factor 2 [Gene - OMIM - HGNC]
LOC105369149:uncharacterized LOC105369149 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)
HGVS:
  • NC_000011.10:g.9789236T>C
  • NG_008074.1:g.509972A>G
  • NM_001386339.1:c.4901A>G
  • NM_001386342.1:c.4676A>G
  • NM_030962.4:c.4805A>GMANE SELECT
  • NP_001373268.1:p.Lys1634Arg
  • NP_001373271.1:p.Lys1559Arg
  • NP_112224.1:p.Lys1602Arg
  • NP_112224.1:p.Lys1602Arg
  • LRG_267t1:c.4805A>G
  • LRG_267:g.509972A>G
  • LRG_267p1:p.Lys1602Arg
  • NC_000011.9:g.9810783T>C
  • NM_030962.3:c.4805A>G
Protein change:
K1559R
Links:
dbSNP: rs147772705
NCBI 1000 Genomes Browser:
rs147772705
Molecular consequence:
  • NM_001386339.1:c.4901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386342.1:c.4676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030962.4:c.4805A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 4B2
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2; CMT 4B2; Charcot-Marie-Tooth Neuropathy Type 4B2
Identifiers:
MONDO: MONDO:0011475; MedGen: C1858278; Orphanet: 99956; OMIM: 604563

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001523463Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 15, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Baylor Genetics, SCV001523463.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Sep 1, 2024