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NM_002148.4(HOXD10):c.586C>A (p.Gln196Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 2022
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:
RCV004247088.1

Allele description [Variation Report for NM_002148.4(HOXD10):c.586C>A (p.Gln196Lys)]

NM_002148.4(HOXD10):c.586C>A (p.Gln196Lys)

Gene:
HOXD10:homeobox D10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_002148.4(HOXD10):c.586C>A (p.Gln196Lys)
HGVS:
  • NC_000002.12:g.176117419C>A
  • NG_008133.2:g.10656C>A
  • NM_002148.4:c.586C>AMANE SELECT
  • NP_002139.2:p.Gln196Lys
  • NP_002139.2:p.Gln196Lys
  • LRG_246t1:c.586C>A
  • LRG_246:g.10656C>A
  • LRG_246p1:p.Gln196Lys
  • NC_000002.11:g.176982147C>A
  • NM_002148.3:c.586C>A
Protein change:
Q196K
Molecular consequence:
  • NM_002148.4:c.586C>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
SCV003756674Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 2022) 		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, SCV003756674.2

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

Description

The c.586C>A (p.Q196K) alteration is located in exon 1 (coding exon 1) of the HOXD10 gene. This alteration results from a C to A substitution at nucleotide position 586, causing the glutamine (Q) at amino acid position 196 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 10, 2024