NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe) 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:: RCV001291171.9

Allele description [Variation Report for NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe)]

NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe)

HGVS:

NC_000011.10:g.103184992C>T
NG_016423.2:g.80562C>T
NM_001080463.2:c.6574C>T
NM_001377.3:c.6574C>TMANE SELECT
NP_001073932.1:p.Leu2192Phe
NP_001368.2:p.Leu2192Phe
NC_000011.9:g.103055721C>T
NG_016423.1:g.80562C>T
NM_001080463.1:c.6574C>T

Protein change:

L2192F

Links:

dbSNP: rs1243999036

NCBI 1000 Genomes Browser:

rs1243999036

Molecular consequence:

NM_001080463.2:c.6574C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001377.3:c.6574C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000611977	Dan Cohn Lab, University Of California Los Angeles	no assertion criteria provided	Pathogenic (Jun 1, 2017)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV001479567	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

SCV000611977

Dan Cohn Lab, University Of California Los Angeles

no assertion criteria provided

Pathogenic
(Jun 1, 2017)

unknown

research

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

SCV001479567

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	unknown	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, SCV000611977.1

#	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	unknown	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, SCV001479567.1

#	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: Jun 9, 2024

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