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NM_000895.3(LTA4H):c.1441G>A (p.Glu481Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 28, 2023
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:
RCV004303508.1

Allele description [Variation Report for NM_000895.3(LTA4H):c.1441G>A (p.Glu481Lys)]

NM_000895.3(LTA4H):c.1441G>A (p.Glu481Lys)

Gene:
LTA4H:leukotriene A4 hydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.1
Genomic location:
Preferred name:
NM_000895.3(LTA4H):c.1441G>A (p.Glu481Lys)
HGVS:
  • NC_000012.12:g.96006403C>T
  • NM_000895.3:c.1441G>AMANE SELECT
  • NM_001256643.1:c.1369G>A
  • NM_001256644.1:c.1369G>A
  • NM_001414263.1:c.1435-2483G>A
  • NM_001414264.1:c.1336G>A
  • NM_001414265.1:c.1441G>A
  • NM_001414266.1:c.805G>A
  • NP_000886.1:p.Glu481Lys
  • NP_001243572.1:p.Glu457Lys
  • NP_001243573.1:p.Glu457Lys
  • NP_001401193.1:p.Glu446Lys
  • NP_001401194.1:p.Glu481Lys
  • NP_001401195.1:p.Glu269Lys
  • NC_000012.11:g.96400181C>T
  • NM_000895.1:c.1441G>A
  • NR_132659.2:n.1448G>A
  • NR_182265.1:n.1509G>A
  • NR_182266.1:n.1622G>A
Protein change:
E269K
Molecular consequence:
  • NM_001414263.1:c.1435-2483G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000895.3:c.1441G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256643.1:c.1369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256644.1:c.1369G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414264.1:c.1336G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414265.1:c.1441G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414266.1:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_132659.2:n.1448G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_182265.1:n.1509G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_182266.1:n.1622G>A - 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
SCV003965853Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 28, 2023) 		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, SCV003965853.2

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

Description

The c.1441G>A (p.E481K) alteration is located in exon 16 (coding exon 16) of the LTA4H gene. This alteration results from a G to A substitution at nucleotide position 1441, causing the glutamic acid (E) at amino acid position 481 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024