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NM_000459.5(TEK):c.665A>T (p.His222Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 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:
RCV004675814.1

Allele description [Variation Report for NM_000459.5(TEK):c.665A>T (p.His222Leu)]

NM_000459.5(TEK):c.665A>T (p.His222Leu)

Gene:
TEK:TEK receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.2
Genomic location:
Preferred name:
NM_000459.5(TEK):c.665A>T (p.His222Leu)
HGVS:
  • NC_000009.12:g.27172652A>T
  • NG_011828.1:g.68504A>T
  • NG_011828.2:g.68513A>T
  • NM_000459.5:c.665A>TMANE SELECT
  • NM_001290077.2:c.665A>T
  • NM_001290078.2:c.353A>T
  • NM_001375475.1:c.665A>T
  • NM_001375476.1:c.665A>T
  • NP_000450.3:p.His222Leu
  • NP_001277006.1:p.His222Leu
  • NP_001277006.2:p.His222Leu
  • NP_001277007.1:p.His118Leu
  • NP_001277007.2:p.His118Leu
  • NP_001362404.1:p.His222Leu
  • NP_001362405.1:p.His222Leu
  • NC_000009.11:g.27172650A>T
  • NM_000459.3:c.665A>T
  • NM_001290077.1:c.665A>T
  • NM_001290078.1:c.353A>T
Protein change:
H118L
Molecular consequence:
  • NM_000459.5:c.665A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290077.2:c.665A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290078.2:c.353A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375475.1:c.665A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375476.1:c.665A>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
SCV005167888Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 29, 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, SCV005167888.1

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

Description

The c.665A>T (p.H222L) alteration is located in exon 5 (coding exon 5) of the TEK gene. This alteration results from a A to T substitution at nucleotide position 665, causing the histidine (H) at amino acid position 222 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: Sep 1, 2024