NM_000523.4(HOXD13):c.744_747del (p.Gln248fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 31, 2017
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:: RCV000850561.1

Allele description [Variation Report for NM_000523.4(HOXD13):c.744_747del (p.Gln248fs)]

NM_000523.4(HOXD13):c.744_747del (p.Gln248fs)

Gene:

HOXD13:homeobox D13 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q31.1

Genomic location:

Preferred name:

NM_000523.4(HOXD13):c.744_747del (p.Gln248fs)

HGVS:

NC_000002.12:g.176093634_176093637del
NG_008137.1:g.5831_5834del
NM_000523.4:c.744_747delMANE SELECT
NP_000514.2:p.Gln248fs
NC_000002.11:g.176958362_176958365del
NC_000002.11:g.176958362_176958365delGCCA

Protein change:

Q248fs

Links:

dbSNP: rs1574943406

NCBI 1000 Genomes Browser:

rs1574943406

Molecular consequence:

NM_000523.4:c.744_747del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Brachydactyly type E1 (BDE1)
Identifiers:: MONDO: MONDO:0007223; MedGen: C1862102; Orphanet: 93387; OMIM: 113300

Name:: Brachydactyly type D
Synonyms:: STUB THUMB
Identifiers:: MONDO: MONDO:0007222; MedGen: C0220664; OMIM: 113200; Human Phenotype Ontology: HP:0005627

Name:: Syndactyly type 5
Synonyms:: SYNDACTYLY WITH METACARPAL AND METATARSAL FUSION; Syndactyly with associated metacarpal and metatarsal fusion; Syndactyly, type V
Identifiers:: MONDO: MONDO:0008516; MedGen: C1861348; Orphanet: 93406; OMIM: 186300

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992776	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 31, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000992776

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 31, 2017)

germline

clinical testing

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Baylor Genetics, SCV000992776.1

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

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

Last Updated: Jul 29, 2023

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