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NM_023034.2(NSD3):c.700G>C (p.Val234Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 4, 2024
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:
RCV004650504.1

Allele description [Variation Report for NM_023034.2(NSD3):c.700G>C (p.Val234Leu)]

NM_023034.2(NSD3):c.700G>C (p.Val234Leu)

Genes:
LOC107133509:NUP98-NSD3 recombination region [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.700G>C (p.Val234Leu)
HGVS:
  • NC_000008.11:g.38338583C>G
  • NG_023292.1:g.48690G>C
  • NG_023292.2:g.48688G>C
  • NG_046665.1:g.7098C>G
  • NM_017778.3:c.700G>C
  • NM_023034.2:c.700G>CMANE SELECT
  • NP_060248.2:p.Val234Leu
  • NP_075447.1:p.Val234Leu
  • NC_000008.10:g.38196101C>G
  • NM_023034.1:c.700G>C
Protein change:
V234L
Molecular consequence:
  • NM_017778.3:c.700G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023034.2:c.700G>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
SCV005147038Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 4, 2024) 		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, SCV005147038.1

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

Description

The c.700G>C (p.V234L) alteration is located in exon 3 (coding exon 2) of the WHSC1L1 gene. This alteration results from a G to C substitution at nucleotide position 700, causing the valine (V) at amino acid position 234 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: Aug 11, 2024