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NM_019558.4(HOXD8):c.364C>A (p.Pro122Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 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:
RCV004307887.1

Allele description [Variation Report for NM_019558.4(HOXD8):c.364C>A (p.Pro122Thr)]

NM_019558.4(HOXD8):c.364C>A (p.Pro122Thr)

Gene:
HOXD8:homeobox D8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_019558.4(HOXD8):c.364C>A (p.Pro122Thr)
HGVS:
  • NC_000002.12:g.176130730C>A
  • NM_001199746.2:c.364C>A
  • NM_001199747.2:c.-123-66C>A
  • NM_019558.4:c.364C>AMANE SELECT
  • NP_001186675.1:p.Pro122Thr
  • NP_062458.1:p.Pro122Thr
  • NC_000002.11:g.176995458C>A
  • NM_019558.3:c.364C>A
Protein change:
P122T
Molecular consequence:
  • NM_001199747.2:c.-123-66C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199746.2:c.364C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019558.4:c.364C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003975976Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 3, 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, SCV003975976.2

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

Description

The c.364C>A (p.P122T) alteration is located in exon 1 (coding exon 1) of the HOXD8 gene. This alteration results from a C to A substitution at nucleotide position 364, causing the proline (P) at amino acid position 122 to be replaced by a threonine (T). 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 10, 2024