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NM_002108.4(HAL):c.840G>A (p.Trp280Ter) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 30, 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:
RCV003317820.1

Allele description [Variation Report for NM_002108.4(HAL):c.840G>A (p.Trp280Ter)]

NM_002108.4(HAL):c.840G>A (p.Trp280Ter)

Gene:
HAL:histidine ammonia-lyase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.1
Genomic location:
Preferred name:
NM_002108.4(HAL):c.840G>A (p.Trp280Ter)
HGVS:
  • NC_000012.12:g.95990408C>T
  • NG_008180.1:g.10886G>A
  • NM_001258333.2:c.216G>A
  • NM_001258334.2:c.840G>A
  • NM_002108.4:c.840G>AMANE SELECT
  • NP_001245262.1:p.Trp72Ter
  • NP_001245263.1:p.Trp280Ter
  • NP_002099.1:p.Trp280Ter
  • NC_000012.11:g.96384186C>T
  • NM_002108.3:c.840G>A
Protein change:
W280*
Molecular consequence:
  • NM_001258333.2:c.216G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258334.2:c.840G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002108.4:c.840G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004020866Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 30, 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004020866.1

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

Description

Variant summary: HAL c.840G>A (p.Trp280X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, however the molecular mechanism of disease attributed to HAL is currently unknown. The variant allele was found at a frequency of 3.2e-05 in 251484 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.840G>A in individuals affected with Histidinemia and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023