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NM_001083961.2(WDR62):c.3211C>T (p.Pro1071Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 9, 2021
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:
RCV002747765.2

Allele description [Variation Report for NM_001083961.2(WDR62):c.3211C>T (p.Pro1071Ser)]

NM_001083961.2(WDR62):c.3211C>T (p.Pro1071Ser)

Gene:
WDR62:WD repeat domain 62 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_001083961.2(WDR62):c.3211C>T (p.Pro1071Ser)
HGVS:
  • NC_000019.10:g.36102142C>T
  • NG_028101.2:g.52247C>T
  • NM_001083961.2:c.3211C>TMANE SELECT
  • NM_001411145.1:c.3196C>T
  • NM_001411146.1:c.2972-595C>T
  • NM_001411147.1:c.2860C>T
  • NM_173636.5:c.3211C>T
  • NP_001077430.1:p.Pro1071Ser
  • NP_001398074.1:p.Pro1066Ser
  • NP_001398076.1:p.Pro954Ser
  • NP_775907.4:p.Pro1071Ser
  • NC_000019.9:g.36593044C>T
  • NG_028101.1:g.52262C>T
  • NM_001083961.1:c.3211C>T
Protein change:
P1066S
Molecular consequence:
  • NM_001411146.1:c.2972-595C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083961.2:c.3211C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001411145.1:c.3196C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001411147.1:c.2860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173636.5:c.3211C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003570849Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 9, 2021) 		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, SCV003570849.2

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

Description

The c.3211C>T (p.P1071S) alteration is located in exon 26 (coding exon 26) of the WDR62 gene. This alteration results from a C to T substitution at nucleotide position 3211, causing the proline (P) at amino acid position 1071 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: Sep 1, 2024