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NM_005522.5(HOXA1):c.435C>T (p.His145=) AND Bosley-Salih-Alorainy syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000358903.5

Allele description [Variation Report for NM_005522.5(HOXA1):c.435C>T (p.His145=)]

NM_005522.5(HOXA1):c.435C>T (p.His145=)

Gene:
HOXA1:homeobox A1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.2
Genomic location:
Preferred name:
NM_005522.5(HOXA1):c.435C>T (p.His145=)
HGVS:
  • NC_000007.14:g.27095478G>A
  • NG_011813.1:g.5529C>T
  • NG_033087.1:g.4385G>A
  • NM_005522.5:c.435C>TMANE SELECT
  • NM_153620.3:c.354+81C>T
  • NP_005513.1:p.His145=
  • NP_005513.2:p.His145=
  • NC_000007.13:g.27135097G>A
  • NM_005522.4:c.435C>T
Links:
dbSNP: rs200448150
NCBI 1000 Genomes Browser:
rs200448150
Molecular consequence:
  • NM_153620.3:c.354+81C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005522.5:c.435C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Bosley-Salih-Alorainy syndrome (BSAS)
Identifiers:
MONDO: MONDO:0019075; MedGen: C1832216

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000468552Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000468552.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024