NM_001377.3(DYNC2H1):c.1360+2del AND Asphyxiating thoracic dystrophy 3

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jun 1, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001291407.11

Allele description [Variation Report for NM_001377.3(DYNC2H1):c.1360+2del]

NM_001377.3(DYNC2H1):c.1360+2del

Gene:

DYNC2H1:dynein cytoplasmic 2 heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_001377.3(DYNC2H1):c.1360+2del

HGVS:

NC_000011.10:g.103121038del
NG_016423.2:g.16608del
NM_001080463.2:c.1360+2del
NM_001377.3:c.1360+2delMANE SELECT
NC_000011.9:g.102991767del
NM_001080463.1:c.1360+2del
NM_001080463.1:c.1360+2delT

Links:

dbSNP: rs780539887

NCBI 1000 Genomes Browser:

rs780539887

Molecular consequence:

NM_001080463.2:c.1360+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001377.3:c.1360+2del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Asphyxiating thoracic dystrophy 3
Synonyms:: POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I; SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC; Short rib polydactyly syndrome 2B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013127; MedGen: C0036069; Orphanet: 474; Orphanet: 93269; Orphanet: 93271; OMIM: 613091

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000612023	Dan Cohn Lab, University Of California Los Angeles	no assertion criteria provided	Pathogenic (Jun 1, 2017)	paternal	research	PubMed (1) [See all records that cite this PMID]
SCV001479900	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000612023

Dan Cohn Lab, University Of California Los Angeles

no assertion criteria provided

Pathogenic
(Jun 1, 2017)

paternal

research

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

SCV001479900

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

inherited

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	inherited	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics., Lachman RS, Krakow D, Cohn DH.

Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.

PubMed [citation]

PMID:: 29068549
PMCID:: PMC6198324

Details of each submission

From Dan Cohn Lab, University Of California Los Angeles, SCV000612023.1

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

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

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479900.1

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

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

Last Updated: Nov 10, 2024

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