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NM_018383.5(WDR33):c.3514C>T (p.Arg1172Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 5, 2022
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:
RCV004129573.1

Allele description [Variation Report for NM_018383.5(WDR33):c.3514C>T (p.Arg1172Cys)]

NM_018383.5(WDR33):c.3514C>T (p.Arg1172Cys)

Gene:
WDR33:WD repeat domain 33 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q14.3
Genomic location:
Preferred name:
NM_018383.5(WDR33):c.3514C>T (p.Arg1172Cys)
HGVS:
  • NC_000002.12:g.127709541G>A
  • NM_018383.5:c.3514C>TMANE SELECT
  • NP_060853.3:p.Arg1172Cys
  • NC_000002.11:g.128467115G>A
  • NM_018383.4:c.3514C>T
Protein change:
R1172C
Molecular consequence:
  • NM_018383.5:c.3514C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003605073Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 5, 2022) 		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, SCV003605073.2

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

Description

The c.3514C>T (p.R1172C) alteration is located in exon 20 (coding exon 19) of the WDR33 gene. This alteration results from a C to T substitution at nucleotide position 3514, causing the arginine (R) at amino acid position 1172 to be replaced by a cysteine (C). 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 19, 2024