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NM_023034.2(NSD3):c.2783C>T (p.Ser928Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 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:
RCV004493738.1

Allele description [Variation Report for NM_023034.2(NSD3):c.2783C>T (p.Ser928Leu)]

NM_023034.2(NSD3):c.2783C>T (p.Ser928Leu)

Gene:
NSD3:nuclear receptor binding SET domain protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.23
Genomic location:
Preferred name:
NM_023034.2(NSD3):c.2783C>T (p.Ser928Leu)
HGVS:
  • NC_000008.11:g.38295928G>A
  • NG_023292.1:g.91345C>T
  • NG_023292.2:g.91343C>T
  • NM_023034.2:c.2783C>TMANE SELECT
  • NP_075447.1:p.Ser928Leu
  • NC_000008.10:g.38153446G>A
  • NM_023034.1:c.2783C>T
Protein change:
S928L
Molecular consequence:
  • NM_023034.2:c.2783C>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
SCV004993322Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 4, 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, SCV004993322.1

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

Description

The c.2783C>T (p.S928L) alteration is located in exon 16 (coding exon 15) of the WHSC1L1 gene. This alteration results from a C to T substitution at nucleotide position 2783, causing the serine (S) at amino acid position 928 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