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NM_005522.5(HOXA1):c.188C>T (p.Ser63Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 15, 2021
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:
RCV002666350.2

Allele description [Variation Report for NM_005522.5(HOXA1):c.188C>T (p.Ser63Leu)]

NM_005522.5(HOXA1):c.188C>T (p.Ser63Leu)

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.188C>T (p.Ser63Leu)
HGVS:
  • NC_000007.14:g.27095725G>A
  • NG_011813.1:g.5282C>T
  • NG_011813.2:g.5275C>T
  • NG_033087.1:g.4632G>A
  • NG_033087.2:g.4633G>A
  • NM_005522.5:c.188C>TMANE SELECT
  • NM_153620.3:c.188C>T
  • NP_005513.2:p.Ser63Leu
  • NP_705873.3:p.Ser63Leu
  • NC_000007.13:g.27135344G>A
  • NM_005522.4:c.188C>T
Protein change:
S63L
Molecular consequence:
  • NM_005522.5:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153620.3:c.188C>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
SCV003719744Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 15, 2021) 		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, SCV003719744.2

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

Description

The c.188C>T (p.S63L) alteration is located in exon 1 (coding exon 1) of the HOXA1 gene. This alteration results from a C to T substitution at nucleotide position 188, causing the serine (S) at amino acid position 63 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: May 1, 2024