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NM_000523.4(HOXD13):c.623A>T (p.Asp208Val) AND Synpolydactyly type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 7, 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:
RCV002264894.1

Allele description [Variation Report for NM_000523.4(HOXD13):c.623A>T (p.Asp208Val)]

NM_000523.4(HOXD13):c.623A>T (p.Asp208Val)

Gene:
HOXD13:homeobox D13 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_000523.4(HOXD13):c.623A>T (p.Asp208Val)
HGVS:
  • NC_000002.12:g.176093513A>T
  • NG_008137.1:g.5710A>T
  • NM_000523.4:c.623A>TMANE SELECT
  • NP_000514.2:p.Asp208Val
  • NC_000002.11:g.176958241A>T
Protein change:
D208V
Links:
dbSNP: rs2105379098
NCBI 1000 Genomes Browser:
rs2105379098
Molecular consequence:
  • NM_000523.4:c.623A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Synpolydactyly type 1
Identifiers:
MONDO: MONDO:0008513; MedGen: C5574994; OMIM: 186000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002546517Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 7, 2022) 		maternalresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes11not providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV002546517.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2023