NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) AND Short-rib thoracic dysplasia 6 with or without polydactyly

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:: RCV000516144.4

Allele description [Variation Report for NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)]

NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)

Genes:

LOC126806961:BRD4-independent group 4 enhancer GRCh37_chr4:5641443-5642642 [Gene]
EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)

HGVS:

NC_000004.12:g.5640789G>A
NG_015821.1:g.73760C>T
NM_001166136.2:c.955C>T
NM_147127.5:c.1195C>TMANE SELECT
NP_001159608.1:p.Arg319Ter
NP_667338.3:p.Arg399Ter
NC_000004.11:g.5642516G>A
NM_147127.4:c.1195C>T

Protein change:

R319*; ARG399TER

Links:

OMIM: 607261.0004; dbSNP: rs137852924

NCBI 1000 Genomes Browser:

rs137852924

Molecular consequence:

NM_001166136.2:c.955C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_147127.5:c.1195C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6)
Synonyms:: POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II; Polydactyly with neonatal chondrodystrophy type 2; Majewski Syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009894; MedGen: C0024507; OMIM: 263520

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000612085	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]
SCV001479761	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

SCV000612085

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]

SCV001479761

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	inherited	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, SCV000612085.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)
2	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
2	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, SCV001479761.1

#	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: Sep 29, 2024

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