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NM_024077.5(SECISBP2):c.1588A>T (p.Thr530Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 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:
RCV003001682.2

Allele description [Variation Report for NM_024077.5(SECISBP2):c.1588A>T (p.Thr530Ser)]

NM_024077.5(SECISBP2):c.1588A>T (p.Thr530Ser)

Gene:
SECISBP2:SECIS binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.2
Genomic location:
Preferred name:
NM_024077.5(SECISBP2):c.1588A>T (p.Thr530Ser)
HGVS:
  • NC_000009.12:g.89347034A>T
  • NG_012177.1:g.33538A>T
  • NG_012177.2:g.33536A>T
  • NM_001282688.2:c.1585A>T
  • NM_001282689.2:c.1369A>T
  • NM_001282690.1:c.1384A>T
  • NM_001354696.2:c.1471A>T
  • NM_001354697.2:c.1474A>T
  • NM_001354698.2:c.1381A>T
  • NM_001354702.2:c.703A>T
  • NM_024077.5:c.1588A>TMANE SELECT
  • NP_001269617.1:p.Thr529Ser
  • NP_001269618.1:p.Thr457Ser
  • NP_001269619.1:p.Thr462Ser
  • NP_001341625.1:p.Thr491Ser
  • NP_001341626.1:p.Thr492Ser
  • NP_001341627.1:p.Thr461Ser
  • NP_001341631.1:p.Thr235Ser
  • NP_076982.3:p.Thr530Ser
  • NC_000009.11:g.91961949A>T
  • NM_024077.3:c.1588A>T
Protein change:
T235S
Molecular consequence:
  • NM_001282688.2:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282689.2:c.1369A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282690.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354696.2:c.1471A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354697.2:c.1474A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354698.2:c.1381A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354702.2:c.703A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024077.5:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003715374Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 27, 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, SCV003715374.2

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

Description

The c.1588A>T (p.T530S) alteration is located in exon 11 (coding exon 11) of the SECISBP2 gene. This alteration results from a A to T substitution at nucleotide position 1588, causing the threonine (T) at amino acid position 530 to be replaced by a serine (S). 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 1, 2024