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NM_194356.4(STX2):c.52G>C (p.Asp18His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 20, 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:
RCV004668239.1

Allele description [Variation Report for NM_194356.4(STX2):c.52G>C (p.Asp18His)]

NM_194356.4(STX2):c.52G>C (p.Asp18His)

Gene:
STX2:syntaxin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.33
Genomic location:
Preferred name:
NM_194356.4(STX2):c.52G>C (p.Asp18His)
HGVS:
  • NC_000012.12:g.130827246C>G
  • NM_001351049.2:c.52G>C
  • NM_001351050.2:c.52G>C
  • NM_001351051.2:c.-327G>C
  • NM_001351052.2:c.-470G>C
  • NM_001413773.1:c.-33G>C
  • NM_001413774.1:c.52G>C
  • NM_001413775.1:c.52G>C
  • NM_001980.5:c.52G>C
  • NM_194356.4:c.52G>CMANE SELECT
  • NP_001337978.2:p.Asp18His
  • NP_001337979.1:p.Asp18His
  • NP_001400703.1:p.Asp18His
  • NP_001400704.1:p.Asp18His
  • NP_001971.2:p.Asp18His
  • NP_919337.1:p.Asp18His
  • NC_000012.11:g.131311791C>G
  • NM_194356.1:c.52G>C
  • NR_182216.1:n.203G>C
  • NR_182217.1:n.203G>C
Protein change:
D18H
Molecular consequence:
  • NM_001351051.2:c.-327G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351052.2:c.-470G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413773.1:c.-33G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351049.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351050.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413774.1:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413775.1:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001980.5:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194356.4:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_182216.1:n.203G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_182217.1:n.203G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV005167480Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 20, 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, SCV005167480.1

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

Description

The c.52G>C (p.D18H) alteration is located in exon 2 (coding exon 2) of the STX2 gene. This alteration results from a G to C substitution at nucleotide position 52, causing the aspartic acid (D) at amino acid position 18 to be replaced by a histidine (H). 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