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NM_001077351.2(RBM23):c.247C>T (p.Arg83Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 2023
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:
RCV004306002.1

Allele description [Variation Report for NM_001077351.2(RBM23):c.247C>T (p.Arg83Trp)]

NM_001077351.2(RBM23):c.247C>T (p.Arg83Trp)

Gene:
RBM23:RNA binding motif protein 23 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_001077351.2(RBM23):c.247C>T (p.Arg83Trp)
HGVS:
  • NC_000014.9:g.22906349G>A
  • NM_001077351.2:c.247C>TMANE SELECT
  • NM_001077352.2:c.199C>T
  • NM_001308044.2:c.-264C>T
  • NM_001352762.2:c.-264C>T
  • NM_001352763.2:c.247C>T
  • NM_001352764.2:c.379C>T
  • NM_001352765.2:c.199C>T
  • NM_001352766.2:c.247C>T
  • NM_018107.5:c.199C>T
  • NP_001070819.1:p.Arg83Trp
  • NP_001070820.1:p.Arg67Trp
  • NP_001339692.1:p.Arg83Trp
  • NP_001339693.1:p.Arg127Trp
  • NP_001339694.1:p.Arg67Trp
  • NP_001339695.1:p.Arg83Trp
  • NP_060577.3:p.Arg67Trp
  • NC_000014.8:g.23375558G>A
  • NM_001077351.1:c.247C>T
Protein change:
R127W
Molecular consequence:
  • NM_001308044.2:c.-264C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352762.2:c.-264C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001077351.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077352.2:c.199C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352763.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352764.2:c.379C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352765.2:c.199C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352766.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018107.5:c.199C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003962791Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 5, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003962791.2

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

Description

The c.247C>T (p.R83W) alteration is located in exon 5 (coding exon 4) of the RBM23 gene. This alteration results from a C to T substitution at nucleotide position 247, causing the arginine (R) at amino acid position 83 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 24, 2024