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NM_001276252.2(WDTC1):c.1631A>C (p.Asn544Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 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:
RCV004321417.1

Allele description [Variation Report for NM_001276252.2(WDTC1):c.1631A>C (p.Asn544Thr)]

NM_001276252.2(WDTC1):c.1631A>C (p.Asn544Thr)

Gene:
WDTC1:WD and tetratricopeptide repeats 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_001276252.2(WDTC1):c.1631A>C (p.Asn544Thr)
HGVS:
  • NC_000001.11:g.27303783A>C
  • NM_001276252.2:c.1631A>CMANE SELECT
  • NM_001410767.1:c.1631A>C
  • NM_015023.5:c.1628A>C
  • NP_001263181.1:p.Asn544Thr
  • NP_001397696.1:p.Asn544Thr
  • NP_055838.2:p.Asn543Thr
  • NC_000001.10:g.27630274A>C
  • NM_015023.3:c.1628A>C
Protein change:
N543T
Molecular consequence:
  • NM_001276252.2:c.1631A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410767.1:c.1631A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015023.5:c.1628A>C - 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
SCV003977819Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 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, SCV003977819.2

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

Description

The c.1628A>C (p.N543T) alteration is located in exon 14 (coding exon 13) of the WDTC1 gene. This alteration results from a A to C substitution at nucleotide position 1628, causing the asparagine (N) at amino acid position 543 to be replaced by a threonine (T). 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 10, 2024