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NM_001010923.3(THEMIS):c.535G>A (p.Glu179Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 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:
RCV002893086.1

Allele description

NM_001010923.3(THEMIS):c.535G>A (p.Glu179Lys)

Gene:
THEMIS:thymocyte selection associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.33
Genomic location:
Preferred name:
NM_001010923.3(THEMIS):c.535G>A (p.Glu179Lys)
HGVS:
  • NC_000006.12:g.127829650C>T
  • NG_016226.1:g.93982G>A
  • NG_016226.2:g.93945G>A
  • NM_001010923.3:c.535G>AMANE SELECT
  • NM_001164685.2:c.535G>A
  • NM_001164687.2:c.430G>A
  • NM_001318531.1:c.244G>A
  • NM_001394520.1:c.457G>A
  • NM_001394521.1:c.251-15719G>A
  • NM_001394522.1:c.244G>A
  • NP_001010923.1:p.Glu179Lys
  • NP_001158157.1:p.Glu179Lys
  • NP_001158159.1:p.Glu144Lys
  • NP_001305460.1:p.Glu82Lys
  • NP_001381449.1:p.Glu153Lys
  • NP_001381451.1:p.Glu82Lys
  • NC_000006.11:g.128150795C>T
  • NM_001164685.1:c.535G>A
Protein change:
E144K
Molecular consequence:
  • NM_001394521.1:c.251-15719G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001010923.3:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164685.2:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164687.2:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318531.1:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394520.1:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394522.1:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV003654836Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Oct 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003654836.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.535G>A (p.E179K) alteration is located in exon 3 (coding exon 3) of the THEMIS gene. This alteration results from a G to A substitution at nucleotide position 535, causing the glutamic acid (E) at amino acid position 179 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 13, 2023