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NM_014983.3(HMGXB3):c.2216C>T (p.Ser739Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 22, 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:
RCV004632885.1

Allele description [Variation Report for NM_014983.3(HMGXB3):c.2216C>T (p.Ser739Leu)]

NM_014983.3(HMGXB3):c.2216C>T (p.Ser739Leu)

Gene:
HMGXB3:HMG-box containing 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_014983.3(HMGXB3):c.2216C>T (p.Ser739Leu)
HGVS:
  • NC_000005.10:g.150036868C>T
  • NG_021389.1:g.41263C>T
  • NG_021389.2:g.41131C>T
  • NM_001366501.2:c.1718C>T
  • NM_014983.3:c.2216C>TMANE SELECT
  • NP_001353430.1:p.Ser573Leu
  • NP_055798.3:p.Ser739Leu
  • NC_000005.9:g.149416431C>T
  • NM_014983.2:c.2216C>T
Protein change:
S573L
Molecular consequence:
  • NM_001366501.2:c.1718C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014983.3:c.2216C>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
SCV005121996Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 22, 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, SCV005121996.1

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

Description

The c.2216C>T (p.S739L) alteration is located in exon 12 (coding exon 11) of the HMGXB3 gene. This alteration results from a C to T substitution at nucleotide position 2216, causing the serine (S) at amino acid position 739 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