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

Recent activity

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homeobox protein prophet of Pit-1 [Mus musculus]
homeobox protein prophet of Pit-1 [Mus musculus]
gi|6679481|ref|NP_032962.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002546517	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 7, 2022)	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002546517

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 7, 2022)

maternal

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	1	not provided	not provided	not provided	research

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Dec 24, 2023

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