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NM_001098634.2(RBM47):c.541G>T (p.Val181Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 17, 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:
RCV004441351.1

Allele description [Variation Report for NM_001098634.2(RBM47):c.541G>T (p.Val181Leu)]

NM_001098634.2(RBM47):c.541G>T (p.Val181Leu)

Gene:
RBM47:RNA binding motif protein 47 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_001098634.2(RBM47):c.541G>T (p.Val181Leu)
HGVS:
  • NC_000004.12:g.40438353C>A
  • NM_001098634.2:c.541G>TMANE SELECT
  • NM_001371113.1:c.541G>T
  • NM_001371114.1:c.427G>T
  • NM_019027.4:c.541G>T
  • NP_001092104.1:p.Val181Leu
  • NP_001358042.1:p.Val181Leu
  • NP_001358043.1:p.Val143Leu
  • NP_061900.2:p.Val181Leu
  • NC_000004.11:g.40440370C>A
  • NM_001098634.1:c.541G>T
Protein change:
V143L
Molecular consequence:
  • NM_001098634.2:c.541G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371113.1:c.541G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371114.1:c.427G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019027.4:c.541G>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
SCV004938518Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 17, 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, SCV004938518.1

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

Description

The c.541G>T (p.V181L) alteration is located in exon 4 (coding exon 1) of the RBM47 gene. This alteration results from a G to T substitution at nucleotide position 541, causing the valine (V) at amino acid position 181 to be replaced by a leucine (L). 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