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NM_001003793.3(RBMS3):c.55C>T (p.Pro19Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 25, 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:
RCV004443406.1

Allele description [Variation Report for NM_001003793.3(RBMS3):c.55C>T (p.Pro19Ser)]

NM_001003793.3(RBMS3):c.55C>T (p.Pro19Ser)

Gene:
RBMS3:RNA binding motif single stranded interacting protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p24.1
Genomic location:
Preferred name:
NM_001003793.3(RBMS3):c.55C>T (p.Pro19Ser)
HGVS:
  • NC_000003.12:g.29281736C>T
  • NM_001003792.3:c.55C>T
  • NM_001003793.3:c.55C>TMANE SELECT
  • NM_001177711.2:c.55C>T
  • NM_001177712.2:c.55C>T
  • NM_001330696.1:c.55C>T
  • NM_014483.4:c.55C>T
  • NP_001003792.1:p.Pro19Ser
  • NP_001003793.1:p.Pro19Ser
  • NP_001171182.1:p.Pro19Ser
  • NP_001171183.1:p.Pro19Ser
  • NP_001317625.1:p.Pro19Ser
  • NP_055298.2:p.Pro19Ser
  • NC_000003.11:g.29323227C>T
  • NM_001003793.2:c.55C>T
Protein change:
P19S
Molecular consequence:
  • NM_001003792.3:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001003793.3:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177711.2:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177712.2:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330696.1:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014483.4:c.55C>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
SCV004939146Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 25, 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, SCV004939146.1

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

Description

The c.55C>T (p.P19S) alteration is located in exon 1 (coding exon 1) of the RBMS3 gene. This alteration results from a C to T substitution at nucleotide position 55, causing the proline (P) at amino acid position 19 to be replaced by a serine (S). 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: May 7, 2024