NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs) AND Short-rib polydactyly syndrome type I

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Germline classification:: Pathogenic (1 submission)
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:: RCV000515963.1

Allele description

NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs)

HGVS:

NC_000011.10:g.103456350_103456351insT
NG_016423.1:g.351919_351920insT
NG_016423.2:g.351920_351921insT
NM_001080463.2:c.12663_12664insT
NM_001377.3:c.12642_12643insTMANE SELECT
NP_001073932.1:p.Ile4222fs
NP_001368.2:p.Ile4215fs
NC_000011.9:g.103327078_103327079insT
NM_001080463.1:c.12663_12664insT

Protein change:

I4215fs

Links:

dbSNP: rs756811136

NCBI 1000 Genomes Browser:

rs756811136

Molecular consequence:

NM_001080463.2:c.12663_12664insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377.3:c.12642_12643insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Short-rib polydactyly syndrome type I
Identifiers:: MedGen: CN674506

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000612009	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]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000612009

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]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
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, SCV000612009.1

#	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

Last Updated: Nov 29, 2021

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